Canonical Allele Identifier: CA381936355

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2831860
• ClinVar RCV Id: RCV003686817
• gnomAD v4: 11-77211331-G-C
• MyVariant Identifiers: chr11:g.76922376G>C (hg19) ; chr11:g.77211331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211331G>C , CM000673.2:g.77211331G>C	GRCh38
NC_000011.9:g.76922376G>C , CM000673.1:g.76922376G>C	GRCh37
NC_000011.8:g.76600024G>C	NCBI36
NG_009086.1:g.88067G>C
NG_009086.2:g.88086G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6231G>C MANE Select	ENSP00000386331.3:p.Trp2077Cys
ENST00000670577.1:c.4032G>C
ENST00000409619.6:c.6084G>C	ENSP00000386635.2:p.Trp2028Cys
ENST00000409709.7:c.6231G>C	ENSP00000386331.3:p.Trp2077Cys
ENST00000458169.2:c.3657G>C	ENSP00000417017.2:p.Trp1219Cys
ENST00000458637.6:c.6117G>C	ENSP00000392185.2:p.Trp2039Cys
ENST00000481328.7:n.3767G>C
ENST00000526863.2:n.25+420G>C
ENST00000605744.1:n.1698G>C
NM_000260.3:c.6231G>C	NP_000251.3:p.Trp2077Cys
NM_001127180.1:c.6117G>C	NP_001120652.1:p.Trp2039Cys
XM_005274012.2:c.6114G>C	XP_005274069.1:p.Trp2038Cys
XM_006718558.2:c.6222G>C	XP_006718621.1:p.Trp2074Cys
XM_006718559.2:c.6117G>C	XP_006718622.1:p.Trp2039Cys
XM_006718560.2:c.6114G>C	XP_006718623.1:p.Trp2038Cys
XM_006718561.2:c.6117G>C	XP_006718624.1:p.Trp2039Cys
XM_011545044.1:c.6231G>C	XP_011543346.1:p.Trp2077Cys
XM_011545045.1:c.6225G>C	XP_011543347.1:p.Trp2075Cys
XM_011545046.1:c.6198G>C	XP_011543348.1:p.Trp2066Cys
XM_011545047.1:c.6135G>C	XP_011543349.1:p.Trp2045Cys
XM_011545048.1:c.6006G>C	XP_011543350.1:p.Trp2002Cys
XM_011545049.1:c.5994G>C	XP_011543351.1:p.Trp1998Cys
XM_011545050.1:c.5967G>C	XP_011543352.1:p.Trp1989Cys
XM_011545051.1:c.6231G>C	XP_011543353.1:p.Trp2077Cys
XR_949938.1:n.6551G>C
XR_949941.1:n.6525G>C
XM_011545044.2:c.6231G>C	XP_011543346.1:p.Trp2077Cys
XM_011545046.2:c.6321G>C	XP_011543348.2:p.Trp2107Cys
XM_011545050.2:c.5967G>C	XP_011543352.1:p.Trp1989Cys
XM_017017778.1:c.6315G>C	XP_016873267.1:p.Trp2105Cys
XM_017017779.1:c.6312G>C	XP_016873268.1:p.Trp2104Cys
XM_017017780.1:c.6321G>C	XP_016873269.1:p.Trp2107Cys
XM_017017781.1:c.6225G>C	XP_016873270.1:p.Trp2075Cys
XM_017017782.1:c.6207G>C	XP_016873271.1:p.Trp2069Cys
XM_017017783.1:c.6204G>C	XP_016873272.1:p.Trp2068Cys
XM_017017784.1:c.6204G>C	XP_016873273.1:p.Trp2068Cys
XM_017017785.1:c.6084G>C	XP_016873274.1:p.Trp2028Cys
XM_017017786.1:c.6321G>C	XP_016873275.1:p.Trp2107Cys
XM_017017788.1:c.6207G>C	XP_016873277.1:p.Trp2069Cys
XR_001747885.1:n.6310G>C
XR_001747887.1:n.6296G>C
NM_000260.4:c.6231G>C MANE Select	NP_000251.3:p.Trp2077Cys
NM_001127180.2:c.6117G>C	NP_001120652.1:p.Trp2039Cys
NM_001369365.1:c.6084G>C	NP_001356294.1:p.Trp2028Cys