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 |
|---|---|---|---|---|---|
| 3 | g.87264333G>A | CA353693677 | POU1F1 | c.472C>T (p.Leu158Phe) c.394C>T (p.Leu132Phe) c.215-2098C>T (n.215-2098C>T) | |
| 3 | g.87264333G>C | CA353693679 | POU1F1 | c.472C>G (p.Leu158Val) c.394C>G (p.Leu132Val) c.215-2098C>G (n.215-2098C>G) | |
| 3 | g.87264333G>T | CA353693681 | POU1F1 | c.472C>A (p.Leu158Ile) c.394C>A (p.Leu132Ile) c.215-2098C>A (n.215-2098C>A) | gnomAD v4 |
| 3 | g.87264333_87264338del | CA2666629901 | POU1F1 | c.467_472del (p.Arg156_Leu158delinsIle) c.389_394del (p.Arg130_Leu132delinsIle) c.215-2103_215-2098del (n.215-2103_215-2098del) | gnomAD v4 |
| 3 | g.87264334T>A | CA353693683 | POU1F1 | c.471A>T (p.Glu157Asp) c.393A>T (p.Glu131Asp) c.215-2099A>T (n.215-2099A>T) | |
| 3 | g.87264334T>C | CA434627027 | POU1F1 | c.471A>G (p.Glu157=) c.393A>G (p.Glu131=) c.215-2099A>G (n.215-2099A>G) | dbSNP |
| 3 | g.87264334T>G | CA353693684 | POU1F1 | c.471A>C (p.Glu157Asp) c.393A>C (p.Glu131Asp) c.215-2099A>C (n.215-2099A>C) | |
| 3 | g.87264334T= | CA1381535036 | POU1F1 | c.471A= (p.Glu157=) c.393A= (p.Glu131=) c.215-2099A= (n.215-2099A=) | |
| 3 | g.87264335T>A | CA353693685 | POU1F1 | c.470A>T (p.Glu157Val) c.392A>T (p.Glu131Val) c.215-2100A>T (n.215-2100A>T) | |
| 3 | g.87264335T>C | CA353693687 | POU1F1 | c.470A>G (p.Glu157Gly) c.392A>G (p.Glu131Gly) c.215-2100A>G (n.215-2100A>G) | |
| 3 | g.87264335T>G | CA353693688 | POU1F1 | c.470A>C (p.Glu157Ala) c.392A>C (p.Glu131Ala) c.215-2100A>C (n.215-2100A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87264335T= | CA1381535039 | POU1F1 | c.470A= (p.Glu157=) c.392A= (p.Glu131=) c.215-2100A= (n.215-2100A=) | |
| 3 | g.87264336C>A | CA353693701 | POU1F1 | c.469G>T (p.Glu157Ter) c.391G>T (p.Glu131Ter) c.215-2101G>T (n.215-2101G>T) | COSMIC COSMIC |
| 3 | g.87264336C= | CA1381535042 | POU1F1 | c.469G= (p.Glu157=) c.391G= (p.Glu131=) c.215-2101G= (n.215-2101G=) | |
| 3 | g.87264336C>G | CA353693698 | POU1F1 | c.469G>C (p.Glu157Gln) c.391G>C (p.Glu131Gln) c.215-2101G>C (n.215-2101G>C) | |
| 3 | g.87264336C>T | CA353693692 | POU1F1 | c.469G>A (p.Glu157Lys) c.391G>A (p.Glu131Lys) c.215-2101G>A (n.215-2101G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87264337T>A | CA353693703 | POU1F1 | c.468A>T (p.Arg156Ser) c.390A>T (p.Arg130Ser) c.215-2102A>T (n.215-2102A>T) | |
| 3 | g.87264337T>C | CA434627030 | POU1F1 | c.468A>G (p.Arg156=) c.390A>G (p.Arg130=) c.215-2102A>G (n.215-2102A>G) | |
| 3 | g.87264337T>G | CA353693705 | POU1F1 | c.468A>C (p.Arg156Ser) c.390A>C (p.Arg130Ser) c.215-2102A>C (n.215-2102A>C) | |
| 3 | g.87264338C>A | CA353693706 | POU1F1 | c.467G>T (p.Arg156Ile) c.389G>T (p.Arg130Ile) c.215-2103G>T (n.215-2103G>T) | |
| 3 | g.87264338C= | CA1381535046 | POU1F1 | c.467G= (p.Arg156=) c.389G= (p.Arg130=) c.215-2103G= (n.215-2103G=) | |
| 3 | g.87264338C>G | CA2501219 | POU1F1 | c.467G>C (p.Arg156Thr) c.389G>C (p.Arg130Thr) c.215-2103G>C (n.215-2103G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87264338C>T | CA353693707 | POU1F1 | c.467G>A (p.Arg156Lys) c.389G>A (p.Arg130Lys) c.215-2103G>A (n.215-2103G>A) | |
| 3 | g.87264339T>A | CA353693709 | POU1F1 | c.466A>T (p.Arg156Ter) c.388A>T (p.Arg130Ter) c.215-2104A>T (n.215-2104A>T) | |
| 3 | g.87264339T>C | CA353693713 | POU1F1 | c.466A>G (p.Arg156Gly) c.388A>G (p.Arg130Gly) c.215-2104A>G (n.215-2104A>G) | |
| 3 | g.87264339T>G | CA434627034 | POU1F1 | c.466A>C (p.Arg156=) c.388A>C (p.Arg130=) c.215-2104A>C (n.215-2104A>C) | |
| 3 | g.87264340G>A | CA434627036 | POU1F1 | c.465C>T (p.Ile155=) c.387C>T (p.Ile129=) c.215-2105C>T (n.215-2105C>T) | |
| 3 | g.87264340G>C | CA353693715 | POU1F1 | c.465C>G (p.Ile155Met) c.387C>G (p.Ile129Met) c.215-2105C>G (n.215-2105C>G) | |
| 3 | g.87264340G>T | CA434627038 | POU1F1 | c.465C>A (p.Ile155=) c.387C>A (p.Ile129=) c.215-2105C>A (n.215-2105C>A) | |
| 3 | g.87264341A= | CA1381535051 | POU1F1 | c.464T= (p.Ile155=) c.386T= (p.Ile129=) c.215-2106T= (n.215-2106T=) | |
| 3 | g.87264341A>C | CA353693717 | POU1F1 | c.464T>G (p.Ile155Ser) c.386T>G (p.Ile129Ser) c.215-2106T>G (n.215-2106T>G) | |
| 3 | g.87264341A>G | CA353693718 | POU1F1 | c.464T>C (p.Ile155Thr) c.386T>C (p.Ile129Thr) c.215-2106T>C (n.215-2106T>C) | |
| 3 | g.87264341A>T | CA79036903 | POU1F1 | c.464T>A (p.Ile155Asn) c.386T>A (p.Ile129Asn) c.215-2106T>A (n.215-2106T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87264342T>A | CA353693719 | POU1F1 | c.463A>T (p.Ile155Phe) c.385A>T (p.Ile129Phe) c.215-2107A>T (n.215-2107A>T) | |
| 3 | g.87264342T>C | CA353693720 | POU1F1 | c.463A>G (p.Ile155Val) c.385A>G (p.Ile129Val) c.215-2107A>G (n.215-2107A>G) | |
| 3 | g.87264342T>G | CA353693721 | POU1F1 | c.463A>C (p.Ile155Leu) c.385A>C (p.Ile129Leu) c.215-2107A>C (n.215-2107A>C) | |
| 3 | g.87264343T>A | CA353693724 | POU1F1 | c.462A>T (p.Glu154Asp) c.384A>T (p.Glu128Asp) c.215-2108A>T (n.215-2108A>T) | |
| 3 | g.87264343T>C | CA434627051 | POU1F1 | c.462A>G (p.Glu154=) c.384A>G (p.Glu128=) c.215-2108A>G (n.215-2108A>G) | |
| 3 | g.87264343T>G | CA353693725 | POU1F1 | c.462A>C (p.Glu154Asp) c.384A>C (p.Glu128Asp) c.215-2108A>C (n.215-2108A>C) | |
| 3 | g.87264344T>A | CA353693728 | POU1F1 | c.461A>T (p.Glu154Val) c.383A>T (p.Glu128Val) c.215-2109A>T (n.215-2109A>T) | |
| 3 | g.87264344T>C | CA353693730 | POU1F1 | c.461A>G (p.Glu154Gly) c.383A>G (p.Glu128Gly) c.215-2109A>G (n.215-2109A>G) | dbSNP |
| 3 | g.87264344T>G | CA353693734 | POU1F1 | c.461A>C (p.Glu154Ala) c.383A>C (p.Glu128Ala) c.215-2109A>C (n.215-2109A>C) | |
| 3 | g.87264344T= | CA1381535052 | POU1F1 | c.461A= (p.Glu154=) c.383A= (p.Glu128=) c.215-2109A= (n.215-2109A=) | |
| 3 | g.87264345C>A | CA353693735 | POU1F1 | c.460G>T (p.Glu154Ter) c.382G>T (p.Glu128Ter) c.215-2110G>T (n.215-2110G>T) | |
| 3 | g.87264345C>G | CA353693737 | POU1F1 | c.460G>C (p.Glu154Gln) c.382G>C (p.Glu128Gln) c.215-2110G>C (n.215-2110G>C) | |
| 3 | g.87264345C>T | CA353693739 | POU1F1 | c.460G>A (p.Glu154Lys) c.382G>A (p.Glu128Lys) c.215-2110G>A (n.215-2110G>A) | |
| 3 | g.87264346T>A | CA434627060 | POU1F1 | c.459A>T (p.Pro153=) c.381A>T (p.Pro127=) c.215-2111A>T (n.215-2111A>T) | |
| 3 | g.87264346T>C | CA434627061 | POU1F1 | c.459A>G (p.Pro153=) c.381A>G (p.Pro127=) c.215-2111A>G (n.215-2111A>G) | |
| 3 | g.87264346T>G | CA434627062 | POU1F1 | c.459A>C (p.Pro153=) c.381A>C (p.Pro127=) c.215-2111A>C (n.215-2111A>C) | |
| 3 | g.87264347G>A | CA2501220 | POU1F1 | c.458C>T (p.Pro153Leu) c.380C>T (p.Pro127Leu) c.215-2112C>T (n.215-2112C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |