Canonical Allele Identifier: CA381935623

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211186-G-T
• MyVariant Identifiers: chr11:g.76922231G>T (hg19) ; chr11:g.77211186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211186G>T , CM000673.2:g.77211186G>T	GRCh38
NC_000011.9:g.76922231G>T , CM000673.1:g.76922231G>T	GRCh37
NC_000011.8:g.76599879G>T	NCBI36
NG_009086.1:g.87922G>T
NG_009086.2:g.87941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6086G>T MANE Select	ENSP00000386331.3:p.Cys2029Phe
ENST00000670577.1:c.3887G>T
ENST00000409619.6:c.5939G>T	ENSP00000386635.2:p.Cys1980Phe
ENST00000409709.7:c.6086G>T	ENSP00000386331.3:p.Cys2029Phe
ENST00000458169.2:c.3512G>T	ENSP00000417017.2:p.Cys1171Phe
ENST00000458637.6:c.5972G>T	ENSP00000392185.2:p.Cys1991Phe
ENST00000481328.7:n.3622G>T
ENST00000526863.2:n.25+275G>T
ENST00000605744.1:n.1553G>T
NM_000260.3:c.6086G>T	NP_000251.3:p.Cys2029Phe
NM_001127180.1:c.5972G>T	NP_001120652.1:p.Cys1991Phe
XM_005274012.2:c.5969G>T	XP_005274069.1:p.Cys1990Phe
XM_006718558.2:c.6077G>T	XP_006718621.1:p.Cys2026Phe
XM_006718559.2:c.5972G>T	XP_006718622.1:p.Cys1991Phe
XM_006718560.2:c.5969G>T	XP_006718623.1:p.Cys1990Phe
XM_006718561.2:c.5972G>T	XP_006718624.1:p.Cys1991Phe
XM_011545044.1:c.6086G>T	XP_011543346.1:p.Cys2029Phe
XM_011545045.1:c.6080G>T	XP_011543347.1:p.Cys2027Phe
XM_011545046.1:c.6053G>T	XP_011543348.1:p.Cys2018Phe
XM_011545047.1:c.5990G>T	XP_011543349.1:p.Cys1997Phe
XM_011545048.1:c.5861G>T	XP_011543350.1:p.Cys1954Phe
XM_011545049.1:c.5849G>T	XP_011543351.1:p.Cys1950Phe
XM_011545050.1:c.5822G>T	XP_011543352.1:p.Cys1941Phe
XM_011545051.1:c.6086G>T	XP_011543353.1:p.Cys2029Phe
XR_949938.1:n.6406G>T
XR_949941.1:n.6380G>T
XM_011545044.2:c.6086G>T	XP_011543346.1:p.Cys2029Phe
XM_011545046.2:c.6176G>T	XP_011543348.2:p.Cys2059Phe
XM_011545050.2:c.5822G>T	XP_011543352.1:p.Cys1941Phe
XM_017017778.1:c.6170G>T	XP_016873267.1:p.Cys2057Phe
XM_017017779.1:c.6167G>T	XP_016873268.1:p.Cys2056Phe
XM_017017780.1:c.6176G>T	XP_016873269.1:p.Cys2059Phe
XM_017017781.1:c.6080G>T	XP_016873270.1:p.Cys2027Phe
XM_017017782.1:c.6062G>T	XP_016873271.1:p.Cys2021Phe
XM_017017783.1:c.6059G>T	XP_016873272.1:p.Cys2020Phe
XM_017017784.1:c.6059G>T	XP_016873273.1:p.Cys2020Phe
XM_017017785.1:c.5939G>T	XP_016873274.1:p.Cys1980Phe
XM_017017786.1:c.6176G>T	XP_016873275.1:p.Cys2059Phe
XM_017017788.1:c.6062G>T	XP_016873277.1:p.Cys2021Phe
XR_001747885.1:n.6165G>T
XR_001747886.1:n.6106G>T
XR_001747887.1:n.6151G>T
NM_000260.4:c.6086G>T MANE Select	NP_000251.3:p.Cys2029Phe
NM_001127180.2:c.5972G>T	NP_001120652.1:p.Cys1991Phe
NM_001369365.1:c.5939G>T	NP_001356294.1:p.Cys1980Phe