Canonical Allele Identifier: CA10604413
Gene: MYO7A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 283164
ClinVar RCV Id: RCV000331588
dbSNP Id: rs111033181

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77156022T>C , CM000673.2:g.77156022T>C GRCh38
NC_000011.8:g.76544716T>C NCBI36
NC_000011.9:g.76867068T>C , CM000673.1:g.76867068T>C GRCh37
NG_009086.1:g.32759T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409619.6:c.368T>C ENSP00000386635.2:p.Ile123Thr
ENST00000409709.7:c.401T>C ENSP00000386331.3:p.Ile134Thr
ENST00000409893.5:c.401T>C ENSP00000386689.1:p.Ile134Thr
ENST00000458637.6:c.401T>C ENSP00000392185.2:p.Ile134Thr
ENST00000620575.4:c.401T>C ENSP00000477640.1:p.Ile134Thr
NM_000260.3:c.401T>C VV NP_000251.3:p.Ile134Thr
NM_001127179.2:c.401T>C VV NP_001120651.2:p.Ile134Thr
NM_001127180.1:c.401T>C VV NP_001120652.1:p.Ile134Thr
XM_005274012.2:c.401T>C XP_005274069.1:p.Ile134Thr
XM_006718558.2:c.401T>C XP_006718621.1:p.Ile134Thr
XM_006718559.2:c.401T>C XP_006718622.1:p.Ile134Thr
XM_006718560.2:c.401T>C XP_006718623.1:p.Ile134Thr
XM_006718561.2:c.401T>C XP_006718624.1:p.Ile134Thr
XM_011545044.1:c.401T>C XP_011543346.1:p.Ile134Thr
XM_011545045.1:c.401T>C XP_011543347.1:p.Ile134Thr
XM_011545046.1:c.368T>C XP_011543348.1:p.Ile123Thr
XM_011545047.1:c.401T>C XP_011543349.1:p.Ile134Thr
XM_011545048.1:c.401T>C XP_011543350.1:p.Ile134Thr
XM_011545049.1:c.401T>C XP_011543351.1:p.Ile134Thr
XM_011545050.1:c.143T>C XP_011543352.1:p.Ile48Thr
XM_011545051.1:c.401T>C XP_011543353.1:p.Ile134Thr
XM_011545052.1:c.401T>C XP_011543354.1:p.Ile134Thr
XR_949938.1:n.721T>C
XR_949941.1:n.721T>C
XR_949942.1:n.723T>C
XR_949943.1:n.723T>C