UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87515400C>A | CA368044754 | ABCB1 | c.3113G>T (p.Gly1038Val) n.269G>T n.755G>T n.741G>T c.2921G>T (p.Gly974Val) c.3323G>T (p.Gly1108Val) | |
| 7 | g.87515400C= | CA1723626211 | ABCB1 | c.3113G= (p.Gly1038=) n.269G= n.755G= n.741G= c.2921G= (p.Gly974=) c.3323G= (p.Gly1108=) | |
| 7 | g.87515400C>G | CA368044757 | ABCB1 | c.3113G>C (p.Gly1038Ala) n.269G>C n.755G>C n.741G>C c.2921G>C (p.Gly974Ala) c.3323G>C (p.Gly1108Ala) | |
| 7 | g.87515400C>T | CA162101605 | ABCB1 | c.3113G>A (p.Gly1038Asp) n.269G>A n.755G>A n.741G>A c.2921G>A (p.Gly974Asp) c.3323G>A (p.Gly1108Asp) | dbSNP |
| 7 | g.87515401C>A | CA368044765 | ABCB1 | c.3112G>T (p.Gly1038Cys) n.268G>T n.754G>T n.740G>T c.2920G>T (p.Gly974Cys) c.3322G>T (p.Gly1108Cys) | |
| 7 | g.87515401C>G | CA368044759 | ABCB1 | c.3112G>C (p.Gly1038Arg) n.268G>C n.754G>C n.740G>C c.2920G>C (p.Gly974Arg) c.3322G>C (p.Gly1108Arg) | |
| 7 | g.87515401C>T | CA368044763 | ABCB1 | c.3112G>A (p.Gly1038Ser) n.268G>A n.754G>A n.740G>A c.2920G>A (p.Gly974Ser) c.3322G>A (p.Gly1108Ser) | |
| 7 | g.87515402A= | CA1723626212 | ABCB1 | c.3111T= (p.Phe1037=) n.267T= n.753T= n.739T= c.2919T= (p.Phe973=) c.3321T= (p.Phe1107=) | |
| 7 | g.87515402A>C | CA368044768 | ABCB1 | c.3111T>G (p.Phe1037Leu) n.267T>G n.753T>G n.739T>G c.2919T>G (p.Phe973Leu) c.3321T>G (p.Phe1107Leu) | |
| 7 | g.87515402A>G | CA456349664 | ABCB1 | c.3111T>C (p.Phe1037=) n.267T>C n.753T>C n.739T>C c.2919T>C (p.Phe973=) c.3321T>C (p.Phe1107=) | |
| 7 | g.87515402A>T | CA4327852 | ABCB1 | c.3111T>A (p.Phe1037Leu) n.267T>A n.753T>A n.739T>A c.2919T>A (p.Phe973Leu) c.3321T>A (p.Phe1107Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87515403A>C | CA368044773 | ABCB1 | c.3110T>G (p.Phe1037Cys) n.266T>G n.752T>G n.738T>G c.2918T>G (p.Phe973Cys) c.3320T>G (p.Phe1107Cys) | |
| 7 | g.87515403A>G | CA368044774 | ABCB1 | c.3110T>C (p.Phe1037Ser) n.266T>C n.752T>C n.738T>C c.2918T>C (p.Phe973Ser) c.3320T>C (p.Phe1107Ser) | |
| 7 | g.87515403A>T | CA368044775 | ABCB1 | c.3110T>A (p.Phe1037Tyr) n.266T>A n.752T>A n.738T>A c.2918T>A (p.Phe973Tyr) c.3320T>A (p.Phe1107Tyr) | |
| 7 | g.87515404A>C | CA368044777 | ABCB1 | c.3109T>G (p.Phe1037Val) n.265T>G n.751T>G n.737T>G c.2917T>G (p.Phe973Val) c.3319T>G (p.Phe1107Val) | |
| 7 | g.87515404A>G | CA368044780 | ABCB1 | c.3109T>C (p.Phe1037Leu) n.265T>C n.751T>C n.737T>C c.2917T>C (p.Phe973Leu) c.3319T>C (p.Phe1107Leu) | |
| 7 | g.87515404A>T | CA368044782 | ABCB1 | c.3109T>A (p.Phe1037Ile) n.265T>A n.751T>A n.737T>A c.2917T>A (p.Phe973Ile) c.3319T>A (p.Phe1107Ile) | |
| 7 | g.87515405T>A | CA456349666 | ABCB1 | c.3108A>T (p.Thr1036=) n.264A>T n.750A>T n.736A>T c.2916A>T (p.Thr972=) c.3318A>T (p.Thr1106=) | |
| 7 | g.87515405T>C | CA4327853 | ABCB1 | c.3108A>G (p.Thr1036=) n.264A>G n.750A>G n.736A>G c.2916A>G (p.Thr972=) c.3318A>G (p.Thr1106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87515405T>G | CA456349667 | ABCB1 | c.3108A>C (p.Thr1036=) n.264A>C n.750A>C n.736A>C c.2916A>C (p.Thr972=) c.3318A>C (p.Thr1106=) | |
| 7 | g.87515405T= | CA1723626213 | ABCB1 | c.3108A= (p.Thr1036=) n.264A= n.750A= n.736A= c.2916A= (p.Thr972=) c.3318A= (p.Thr1106=) | |
| 7 | g.87515406G>A | CA368044798 | ABCB1 | c.3107C>T (p.Thr1036Ile) n.263C>T n.749C>T n.735C>T c.2915C>T (p.Thr972Ile) c.3317C>T (p.Thr1106Ile) | dbSNP gnomAD v2 COSMIC |
| 7 | g.87515406G>C | CA368044799 | ABCB1 | c.3107C>G (p.Thr1036Arg) n.263C>G n.749C>G n.735C>G c.2915C>G (p.Thr972Arg) c.3317C>G (p.Thr1106Arg) | |
| 7 | g.87515406G= | CA1723626214 | ABCB1 | c.3107C= (p.Thr1036=) n.263C= n.749C= n.735C= c.2915C= (p.Thr972=) c.3317C= (p.Thr1106=) | |
| 7 | g.87515406G>T | CA162101613 | ABCB1 | c.3107C>A (p.Thr1036Lys) n.263C>A n.749C>A n.735C>A c.2915C>A (p.Thr972Lys) c.3317C>A (p.Thr1106Lys) | dbSNP |
| 7 | g.87515407T>A | CA368044801 | ABCB1 | c.3106A>T (p.Thr1036Ser) n.262A>T n.748A>T n.734A>T c.2914A>T (p.Thr972Ser) c.3316A>T (p.Thr1106Ser) | |
| 7 | g.87515407T>C | CA368044805 | ABCB1 | c.3106A>G (p.Thr1036Ala) n.262A>G n.748A>G n.734A>G c.2914A>G (p.Thr972Ala) c.3316A>G (p.Thr1106Ala) | |
| 7 | g.87515407T>G | CA368044802 | ABCB1 | c.3106A>C (p.Thr1036Pro) n.262A>C n.748A>C n.734A>C c.2914A>C (p.Thr972Pro) c.3316A>C (p.Thr1106Pro) | |
| 7 | g.87515408G>A | CA456349671 | ABCB1 | c.3105C>T (p.Val1035=) n.261C>T n.747C>T n.733C>T c.2913C>T (p.Val971=) c.3315C>T (p.Val1105=) | |
| 7 | g.87515408G>C | CA456349672 | ABCB1 | c.3105C>G (p.Val1035=) n.261C>G n.747C>G n.733C>G c.2913C>G (p.Val971=) c.3315C>G (p.Val1105=) | dbSNP |
| 7 | g.87515408G>T | CA456349673 | ABCB1 | c.3105C>A (p.Val1035=) n.261C>A n.747C>A n.733C>A c.2913C>A (p.Val971=) c.3315C>A (p.Val1105=) | |
| 7 | g.87515409A>C | CA368044810 | ABCB1 | c.3104T>G (p.Val1035Gly) n.260T>G n.746T>G n.732T>G c.2912T>G (p.Val971Gly) c.3314T>G (p.Val1105Gly) | |
| 7 | g.87515409A>G | CA368044813 | ABCB1 | c.3104T>C (p.Val1035Ala) n.260T>C n.746T>C n.732T>C c.2912T>C (p.Val971Ala) c.3314T>C (p.Val1105Ala) | |
| 7 | g.87515409A>T | CA368044815 | ABCB1 | c.3104T>A (p.Val1035Asp) n.260T>A n.746T>A n.732T>A c.2912T>A (p.Val971Asp) c.3314T>A (p.Val1105Asp) | |
| 7 | g.87515410C>A | CA368044818 | ABCB1 | c.3103G>T (p.Val1035Phe) n.259G>T n.745G>T n.731G>T c.2911G>T (p.Val971Phe) c.3313G>T (p.Val1105Phe) | |
| 7 | g.87515410C>G | CA368044819 | ABCB1 | c.3103G>C (p.Val1035Leu) n.259G>C n.745G>C n.731G>C c.2911G>C (p.Val971Leu) c.3313G>C (p.Val1105Leu) | |
| 7 | g.87515410C>T | CA368044820 | ABCB1 | c.3103G>A (p.Val1035Ile) n.259G>A n.745G>A n.731G>A c.2911G>A (p.Val971Ile) c.3313G>A (p.Val1105Ile) | |
| 7 | g.87515411A>C | CA368044821 | ABCB1 | c.3102T>G (p.Asn1034Lys) n.258T>G n.744T>G n.730T>G c.2910T>G (p.Asn970Lys) c.3312T>G (p.Asn1104Lys) | |
| 7 | g.87515411A>G | CA456349675 | ABCB1 | c.3102T>C (p.Asn1034=) n.258T>C n.744T>C n.730T>C c.2910T>C (p.Asn970=) c.3312T>C (p.Asn1104=) | gnomAD v4 |
| 7 | g.87515411A>T | CA368044824 | ABCB1 | c.3102T>A (p.Asn1034Lys) n.258T>A n.744T>A n.730T>A c.2910T>A (p.Asn970Lys) c.3312T>A (p.Asn1104Lys) | |
| 7 | g.87515412T>A | CA368044830 | ABCB1 | c.3101A>T (p.Asn1034Ile) n.257A>T n.743A>T n.729A>T c.2909A>T (p.Asn970Ile) c.3311A>T (p.Asn1104Ile) | |
| 7 | g.87515412T>C | CA368044833 | ABCB1 | c.3101A>G (p.Asn1034Ser) n.257A>G n.743A>G n.729A>G c.2909A>G (p.Asn970Ser) c.3311A>G (p.Asn1104Ser) | |
| 7 | g.87515412T>G | CA368044837 | ABCB1 | c.3101A>C (p.Asn1034Thr) n.257A>C n.743A>C n.729A>C c.2909A>C (p.Asn970Thr) c.3311A>C (p.Asn1104Thr) | |
| 7 | g.87515413T>A | CA368044890 | ABCB1 | c.3100A>T (p.Asn1034Tyr) n.256A>T n.742A>T n.728A>T c.2908A>T (p.Asn970Tyr) c.3310A>T (p.Asn1104Tyr) | |
| 7 | g.87515413T>C | CA368044862 | ABCB1 | c.3100A>G (p.Asn1034Asp) n.256A>G n.742A>G n.728A>G c.2908A>G (p.Asn970Asp) c.3310A>G (p.Asn1104Asp) | |
| 7 | g.87515413T>G | CA368044853 | ABCB1 | c.3100A>C (p.Asn1034His) n.256A>C n.742A>C n.728A>C c.2908A>C (p.Asn970His) c.3310A>C (p.Asn1104His) | |
| 7 | g.87515414T>A | CA456349676 | ABCB1 | c.3099A>T (p.Gly1033=) n.255A>T n.741A>T n.727A>T c.2907A>T (p.Gly969=) c.3309A>T (p.Gly1103=) | |
| 7 | g.87515414T>C | CA456349677 | ABCB1 | c.3099A>G (p.Gly1033=) n.255A>G n.741A>G n.727A>G c.2907A>G (p.Gly969=) c.3309A>G (p.Gly1103=) | |
| 7 | g.87515414T>G | CA456349679 | ABCB1 | c.3099A>C (p.Gly1033=) n.255A>C n.741A>C n.727A>C c.2907A>C (p.Gly969=) c.3309A>C (p.Gly1103=) | |
| 7 | g.87515415C>A | CA368044899 | ABCB1 | c.3098G>T (p.Gly1033Val) n.254G>T n.740G>T n.726G>T c.2906G>T (p.Gly969Val) c.3308G>T (p.Gly1103Val) |