Canonical Allele Identifier: CA381935841

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211226-C-A
• MyVariant Identifiers: chr11:g.76922271C>A (hg19) ; chr11:g.77211226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211226C>A , CM000673.2:g.77211226C>A	GRCh38
NC_000011.9:g.76922271C>A , CM000673.1:g.76922271C>A	GRCh37
NC_000011.8:g.76599919C>A	NCBI36
NG_009086.1:g.87962C>A
NG_009086.2:g.87981C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6126C>A MANE Select	ENSP00000386331.3:p.Tyr2042Ter
ENST00000670577.1:c.3927C>A
ENST00000409619.6:c.5979C>A	ENSP00000386635.2:p.Tyr1993Ter
ENST00000409709.7:c.6126C>A	ENSP00000386331.3:p.Tyr2042Ter
ENST00000458169.2:c.3552C>A	ENSP00000417017.2:p.Tyr1184Ter
ENST00000458637.6:c.6012C>A	ENSP00000392185.2:p.Tyr2004Ter
ENST00000481328.7:n.3662C>A
ENST00000526863.2:n.25+315C>A
ENST00000605744.1:n.1593C>A
NM_000260.3:c.6126C>A	NP_000251.3:p.Tyr2042Ter
NM_001127180.1:c.6012C>A	NP_001120652.1:p.Tyr2004Ter
XM_005274012.2:c.6009C>A	XP_005274069.1:p.Tyr2003Ter
XM_006718558.2:c.6117C>A	XP_006718621.1:p.Tyr2039Ter
XM_006718559.2:c.6012C>A	XP_006718622.1:p.Tyr2004Ter
XM_006718560.2:c.6009C>A	XP_006718623.1:p.Tyr2003Ter
XM_006718561.2:c.6012C>A	XP_006718624.1:p.Tyr2004Ter
XM_011545044.1:c.6126C>A	XP_011543346.1:p.Tyr2042Ter
XM_011545045.1:c.6120C>A	XP_011543347.1:p.Tyr2040Ter
XM_011545046.1:c.6093C>A	XP_011543348.1:p.Tyr2031Ter
XM_011545047.1:c.6030C>A	XP_011543349.1:p.Tyr2010Ter
XM_011545048.1:c.5901C>A	XP_011543350.1:p.Tyr1967Ter
XM_011545049.1:c.5889C>A	XP_011543351.1:p.Tyr1963Ter
XM_011545050.1:c.5862C>A	XP_011543352.1:p.Tyr1954Ter
XM_011545051.1:c.6126C>A	XP_011543353.1:p.Tyr2042Ter
XR_949938.1:n.6446C>A
XR_949941.1:n.6420C>A
XM_011545044.2:c.6126C>A	XP_011543346.1:p.Tyr2042Ter
XM_011545046.2:c.6216C>A	XP_011543348.2:p.Tyr2072Ter
XM_011545050.2:c.5862C>A	XP_011543352.1:p.Tyr1954Ter
XM_017017778.1:c.6210C>A	XP_016873267.1:p.Tyr2070Ter
XM_017017779.1:c.6207C>A	XP_016873268.1:p.Tyr2069Ter
XM_017017780.1:c.6216C>A	XP_016873269.1:p.Tyr2072Ter
XM_017017781.1:c.6120C>A	XP_016873270.1:p.Tyr2040Ter
XM_017017782.1:c.6102C>A	XP_016873271.1:p.Tyr2034Ter
XM_017017783.1:c.6099C>A	XP_016873272.1:p.Tyr2033Ter
XM_017017784.1:c.6099C>A	XP_016873273.1:p.Tyr2033Ter
XM_017017785.1:c.5979C>A	XP_016873274.1:p.Tyr1993Ter
XM_017017786.1:c.6216C>A	XP_016873275.1:p.Tyr2072Ter
XM_017017788.1:c.6102C>A	XP_016873277.1:p.Tyr2034Ter
XR_001747885.1:n.6205C>A
XR_001747886.1:n.6146C>A
XR_001747887.1:n.6191C>A
NM_000260.4:c.6126C>A MANE Select	NP_000251.3:p.Tyr2042Ter
NM_001127180.2:c.6012C>A	NP_001120652.1:p.Tyr2004Ter
NM_001369365.1:c.5979C>A	NP_001356294.1:p.Tyr1993Ter