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.
Linked Data
ClinVar Variation Id:
709411
ClinVar RCV Id:
RCV000880808
dbSNP Id:
rs61736690
ExAC:
6:90337302 A / C
gnomAD v2:
6-90337302-A-C
gnomAD v3:
6-89627583-A-C
gnomAD v4:
6-89627583-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89627583A>C , CM000668.2:g.89627583A>C | GRCh38 |
| NC_000006.11:g.90337302A>C , CM000668.1:g.90337302A>C | GRCh37 |
| NC_000006.10:g.90394023A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710308.1:c.1447A>C (ANKRD6) | ENSP00000518190.1:p.Met483Leu | |
| ENST00000339746.9:c.1372A>C (ANKRD6) MANE Select | ENSP00000345767.4:p.Met458Leu | |
| ENST00000339746.8:c.1372A>C (ANKRD6) | ENSP00000345767.4:p.Met458Leu | |
| ENST00000369408.9:c.1267A>C (ANKRD6) | ENSP00000358416.5:p.Met423Leu | |
| ENST00000412237.6:c.187-5635T>G (LYRM2) | ENSP00000430316.1:n.187-5635T>G | |
| ENST00000415924.6:n.1288A>C (ANKRD6) | ||
| ENST00000447838.6:c.1372A>C (ANKRD6) | ENSP00000396771.2:p.Met458Leu | |
| ENST00000479572.1:n.636A>C (ANKRD6) | ||
| ENST00000492158.5:c.92A>C (ANKRD6) | ||
| ENST00000518150.5:c.595A>C (ANKRD6) | ENSP00000429235.1:p.Met199Leu | |
| ENST00000518253.5:n.1189A>C (ANKRD6) | ||
| ENST00000520441.5:c.204-5635T>G (LYRM2) | ENSP00000427859.1:n.204-5635T>G | |
| ENST00000520793.5:c.1195A>C (ANKRD6) | ENSP00000429782.1:p.Met399Leu | |
| ENST00000520897.5:n.221-2981T>G (LYRM2) | ||
| ENST00000521004.1:c.37A>C (ANKRD6) | ENSP00000430452.1:p.Met13Leu | |
| ENST00000522441.5:c.1372A>C (ANKRD6) | ENSP00000430985.1:p.Met458Leu | |
| ENST00000523793.5:n.368-2981T>G (LYRM2) | ||
| ENST00000626778.2:c.187-5635T>G (LYRM2) | ENSP00000486073.1:n.187-5635T>G | |
| NM_001242809.1:c.1372A>C (ANKRD6) | NP_001229738.1:p.Met458Leu | |
| NM_001242811.1:c.1372A>C (ANKRD6) | NP_001229740.1:p.Met458Leu | |
| NM_001242813.1:c.1267A>C (ANKRD6) | NP_001229742.1:p.Met423Leu | |
| NM_001242814.1:c.1195A>C (ANKRD6) | NP_001229743.1:p.Met399Leu | |
| NM_014942.4:c.1372A>C (ANKRD6) | NP_055757.3:p.Met458Leu | |
| XM_005248679.2:c.1447A>C (ANKRD6) | XP_005248736.1:p.Met483Leu | |
| XM_005248680.2:c.1447A>C (ANKRD6) | XP_005248737.1:p.Met483Leu | |
| XM_005248681.1:c.1372A>C (ANKRD6) | XP_005248738.1:p.Met458Leu | |
| XM_005248682.2:c.1369A>C (ANKRD6) | XP_005248739.1:p.Met457Leu | |
| XM_005248683.2:c.1249A>C (ANKRD6) | XP_005248740.1:p.Met417Leu | |
| XM_005248684.2:c.967A>C (ANKRD6) | XP_005248741.1:p.Met323Leu | |
| XM_011535595.1:c.1372A>C (ANKRD6) | XP_011533897.1:p.Met458Leu | |
| XM_011535596.1:c.1348A>C (ANKRD6) | XP_011533898.1:p.Met450Leu | |
| XM_011535597.1:c.1348A>C (ANKRD6) | XP_011533899.1:p.Met450Leu | |
| XM_011535598.1:c.1273A>C (ANKRD6) | XP_011533900.1:p.Met425Leu | |
| XM_011535599.1:c.1273A>C (ANKRD6) | XP_011533901.1:p.Met425Leu | |
| XM_011535600.1:c.1195A>C (ANKRD6) | XP_011533902.1:p.Met399Leu | |
| XM_011535601.1:c.1447A>C (ANKRD6) | XP_011533903.1:p.Met483Leu | |
| XM_005248679.3:c.1447A>C (ANKRD6) | XP_005248736.1:p.Met483Leu | |
| XM_005248680.3:c.1447A>C (ANKRD6) | XP_005248737.1:p.Met483Leu | |
| XM_005248681.2:c.1372A>C (ANKRD6) | XP_005248738.1:p.Met458Leu | |
| XM_005248682.3:c.1369A>C (ANKRD6) | XP_005248739.1:p.Met457Leu | |
| XM_005248683.3:c.1249A>C (ANKRD6) | XP_005248740.1:p.Met417Leu | |
| XM_005248684.3:c.967A>C (ANKRD6) | XP_005248741.1:p.Met323Leu | |
| XM_011535596.2:c.1348A>C (ANKRD6) | XP_011533898.1:p.Met450Leu | |
| XM_011535597.2:c.1348A>C (ANKRD6) | XP_011533899.1:p.Met450Leu | |
| XM_011535598.2:c.1273A>C (ANKRD6) | XP_011533900.1:p.Met425Leu | |
| XM_011535599.2:c.1273A>C (ANKRD6) | XP_011533901.1:p.Met425Leu | |
| XM_011535600.2:c.1195A>C (ANKRD6) | XP_011533902.1:p.Met399Leu | |
| XM_017010493.1:c.1342A>C (ANKRD6) | XP_016865982.1:p.Met448Leu | |
| XM_017010494.1:c.1348A>C (ANKRD6) | XP_016865983.1:p.Met450Leu | |
| XM_017010495.1:c.1273A>C (ANKRD6) | XP_016865984.1:p.Met425Leu | |
| XM_017010496.2:c.1273A>C (ANKRD6) | XP_016865985.1:p.Met425Leu | |
| XM_017010498.1:c.1267A>C (ANKRD6) | XP_016865987.1:p.Met423Leu | |
| XM_017010499.1:c.1243A>C (ANKRD6) | XP_016865988.1:p.Met415Leu | |
| XM_017010500.1:c.1249A>C (ANKRD6) | XP_016865989.1:p.Met417Leu | |
| XM_017010501.1:c.1174A>C (ANKRD6) | XP_016865990.1:p.Met392Leu | |
| XM_017010502.2:c.1174A>C (ANKRD6) | XP_016865991.1:p.Met392Leu | |
| XM_017010503.1:c.1174A>C (ANKRD6) | XP_016865992.1:p.Met392Leu | |
| XM_017010505.1:c.1168A>C (ANKRD6) | XP_016865994.1:p.Met390Leu | |
| XM_017010508.1:c.1075A>C (ANKRD6) | XP_016865997.1:p.Met359Leu | |
| XM_017010510.1:c.970A>C (ANKRD6) | XP_016865999.1:p.Met324Leu | |
| XM_017010511.2:c.970A>C (ANKRD6) | XP_016866000.1:p.Met324Leu | |
| XM_017010512.1:c.892A>C (ANKRD6) | XP_016866001.1:p.Met298Leu | |
| XM_017010513.1:c.892A>C (ANKRD6) | XP_016866002.1:p.Met298Leu | |
| XM_017010514.1:c.793A>C (ANKRD6) | XP_016866003.1:p.Met265Leu | |
| XM_017010515.2:c.670A>C (ANKRD6) | XP_016866004.1:p.Met224Leu | |
| XM_024446357.1:c.1372A>C (ANKRD6) | XP_024302125.1:p.Met458Leu | |
| XM_024446358.1:c.1273A>C (ANKRD6) | XP_024302126.1:p.Met425Leu | |
| XM_024446359.1:c.1267A>C (ANKRD6) | XP_024302127.1:p.Met423Leu | |
| XM_024446360.1:c.1273A>C (ANKRD6) | XP_024302128.1:p.Met425Leu | |
| XM_024446361.1:c.1267A>C (ANKRD6) | XP_024302129.1:p.Met423Leu | |
| XM_024446362.1:c.1174A>C (ANKRD6) | XP_024302130.1:p.Met392Leu | |
| XM_024446363.1:c.1168A>C (ANKRD6) | XP_024302131.1:p.Met390Leu | |
| XM_024446364.1:c.1174A>C (ANKRD6) | XP_024302132.1:p.Met392Leu | |
| XM_024446365.1:c.1174A>C (ANKRD6) | XP_024302133.1:p.Met392Leu | |
| XM_024446366.1:c.1069A>C (ANKRD6) | XP_024302134.1:p.Met357Leu | |
| XM_024446368.1:c.892A>C (ANKRD6) | XP_024302136.1:p.Met298Leu | |
| NM_001242809.2:c.1372A>C (ANKRD6) MANE Select | NP_001229738.1:p.Met458Leu |