Canonical Allele Identifier: CA381936263

Gene: MYO7A

Linked Data

• dbSNP Id: rs1591506417
• MyVariant Identifiers: chr11:g.76922360T>G (hg19) ; chr11:g.77211315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211315T>G , CM000673.2:g.77211315T>G	GRCh38
NC_000011.9:g.76922360T>G , CM000673.1:g.76922360T>G	GRCh37
NC_000011.8:g.76600008T>G	NCBI36
NG_009086.1:g.88051T>G
NG_009086.2:g.88070T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6215T>G MANE Select	ENSP00000386331.3:p.Val2072Gly
ENST00000670577.1:c.4016T>G
ENST00000409619.6:c.6068T>G	ENSP00000386635.2:p.Val2023Gly
ENST00000409709.7:c.6215T>G	ENSP00000386331.3:p.Val2072Gly
ENST00000458169.2:c.3641T>G	ENSP00000417017.2:p.Val1214Gly
ENST00000458637.6:c.6101T>G	ENSP00000392185.2:p.Val2034Gly
ENST00000481328.7:n.3751T>G
ENST00000526863.2:n.25+404T>G
ENST00000605744.1:n.1682T>G
NM_000260.3:c.6215T>G	NP_000251.3:p.Val2072Gly
NM_001127180.1:c.6101T>G	NP_001120652.1:p.Val2034Gly
XM_005274012.2:c.6098T>G	XP_005274069.1:p.Val2033Gly
XM_006718558.2:c.6206T>G	XP_006718621.1:p.Val2069Gly
XM_006718559.2:c.6101T>G	XP_006718622.1:p.Val2034Gly
XM_006718560.2:c.6098T>G	XP_006718623.1:p.Val2033Gly
XM_006718561.2:c.6101T>G	XP_006718624.1:p.Val2034Gly
XM_011545044.1:c.6215T>G	XP_011543346.1:p.Val2072Gly
XM_011545045.1:c.6209T>G	XP_011543347.1:p.Val2070Gly
XM_011545046.1:c.6182T>G	XP_011543348.1:p.Val2061Gly
XM_011545047.1:c.6119T>G	XP_011543349.1:p.Val2040Gly
XM_011545048.1:c.5990T>G	XP_011543350.1:p.Val1997Gly
XM_011545049.1:c.5978T>G	XP_011543351.1:p.Val1993Gly
XM_011545050.1:c.5951T>G	XP_011543352.1:p.Val1984Gly
XM_011545051.1:c.6215T>G	XP_011543353.1:p.Val2072Gly
XR_949938.1:n.6535T>G
XR_949941.1:n.6509T>G
XM_011545044.2:c.6215T>G	XP_011543346.1:p.Val2072Gly
XM_011545046.2:c.6305T>G	XP_011543348.2:p.Val2102Gly
XM_011545050.2:c.5951T>G	XP_011543352.1:p.Val1984Gly
XM_017017778.1:c.6299T>G	XP_016873267.1:p.Val2100Gly
XM_017017779.1:c.6296T>G	XP_016873268.1:p.Val2099Gly
XM_017017780.1:c.6305T>G	XP_016873269.1:p.Val2102Gly
XM_017017781.1:c.6209T>G	XP_016873270.1:p.Val2070Gly
XM_017017782.1:c.6191T>G	XP_016873271.1:p.Val2064Gly
XM_017017783.1:c.6188T>G	XP_016873272.1:p.Val2063Gly
XM_017017784.1:c.6188T>G	XP_016873273.1:p.Val2063Gly
XM_017017785.1:c.6068T>G	XP_016873274.1:p.Val2023Gly
XM_017017786.1:c.6305T>G	XP_016873275.1:p.Val2102Gly
XM_017017788.1:c.6191T>G	XP_016873277.1:p.Val2064Gly
XR_001747885.1:n.6294T>G
XR_001747887.1:n.6280T>G
NM_000260.4:c.6215T>G MANE Select	NP_000251.3:p.Val2072Gly
NM_001127180.2:c.6101T>G	NP_001120652.1:p.Val2034Gly
NM_001369365.1:c.6068T>G	NP_001356294.1:p.Val2023Gly