Canonical Allele Identifier: CA132426
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43322
dbSNP Id: rs200313391

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211314G>A , CM000673.2:g.77211314G>A GRCh38
NC_000011.9:g.76922359G>A , CM000673.1:g.76922359G>A GRCh37
NC_000011.8:g.76600007G>A NCBI36
NG_009086.1:g.88050G>A
NG_009086.2:g.88069G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.6214G>A MANE Select ENSP00000386331.3:p.Val2072Ile
ENST00000670577.1:n.4015G>A
ENST00000409619.6:c.6067G>A ENSP00000386635.2:p.Val2023Ile
ENST00000409709.7:c.6214G>A ENSP00000386331.3:p.Val2072Ile
ENST00000458169.2:n.3640G>A ENSP00000417017.2:p.Val1214Ile
ENST00000458637.6:c.6100G>A ENSP00000392185.2:p.Val2034Ile
ENST00000481328.7:n.3750G>A
ENST00000526863.2:n.25+403G>A
ENST00000605744.1:n.1681G>A
NM_000260.3:c.6214G>A NP_000251.3:p.Val2072Ile
NM_001127180.1:c.6100G>A NP_001120652.1:p.Val2034Ile
XM_005274012.2:c.6097G>A XP_005274069.1:p.Val2033Ile
XM_006718558.2:c.6205G>A XP_006718621.1:p.Val2069Ile
XM_006718559.2:c.6100G>A XP_006718622.1:p.Val2034Ile
XM_006718560.2:c.6097G>A XP_006718623.1:p.Val2033Ile
XM_006718561.2:c.6100G>A XP_006718624.1:p.Val2034Ile
XM_011545044.1:c.6214G>A XP_011543346.1:p.Val2072Ile
XM_011545045.1:c.6208G>A XP_011543347.1:p.Val2070Ile
XM_011545046.1:c.6181G>A XP_011543348.1:p.Val2061Ile
XM_011545047.1:c.6118G>A XP_011543349.1:p.Val2040Ile
XM_011545048.1:c.5989G>A XP_011543350.1:p.Val1997Ile
XM_011545049.1:c.5977G>A XP_011543351.1:p.Val1993Ile
XM_011545050.1:c.5950G>A XP_011543352.1:p.Val1984Ile
XM_011545051.1:c.6214G>A XP_011543353.1:p.Val2072Ile
XR_949938.1:n.6534G>A
XR_949941.1:n.6508G>A
XM_011545044.2:c.6214G>A XP_011543346.1:p.Val2072Ile
XM_011545046.2:c.6304G>A XP_011543348.2:p.Val2102Ile
XM_011545050.2:c.5950G>A XP_011543352.1:p.Val1984Ile
XM_017017778.1:c.6298G>A XP_016873267.1:p.Val2100Ile
XM_017017779.1:c.6295G>A XP_016873268.1:p.Val2099Ile
XM_017017780.1:c.6304G>A XP_016873269.1:p.Val2102Ile
XM_017017781.1:c.6208G>A XP_016873270.1:p.Val2070Ile
XM_017017782.1:c.6190G>A XP_016873271.1:p.Val2064Ile
XM_017017783.1:c.6187G>A XP_016873272.1:p.Val2063Ile
XM_017017784.1:c.6187G>A XP_016873273.1:p.Val2063Ile
XM_017017785.1:c.6067G>A XP_016873274.1:p.Val2023Ile
XM_017017786.1:c.6304G>A XP_016873275.1:p.Val2102Ile
XM_017017788.1:c.6190G>A XP_016873277.1:p.Val2064Ile
XR_001747885.1:n.6293G>A
XR_001747887.1:n.6279G>A
NM_000260.4:c.6214G>A MANE Select NP_000251.3:p.Val2072Ile
NM_001127180.2:c.6100G>A NP_001120652.1:p.Val2034Ile
NM_001369365.1:c.6067G>A NP_001356294.1:p.Val2023Ile