Canonical Allele Identifier: CA381936334

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211329-T-C
• MyVariant Identifiers: chr11:g.76922374T>C (hg19) ; chr11:g.77211329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211329T>C , CM000673.2:g.77211329T>C	GRCh38
NC_000011.9:g.76922374T>C , CM000673.1:g.76922374T>C	GRCh37
NC_000011.8:g.76600022T>C	NCBI36
NG_009086.1:g.88065T>C
NG_009086.2:g.88084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6229T>C MANE Select	ENSP00000386331.3:p.Trp2077Arg
ENST00000670577.1:c.4030T>C
ENST00000409619.6:c.6082T>C	ENSP00000386635.2:p.Trp2028Arg
ENST00000409709.7:c.6229T>C	ENSP00000386331.3:p.Trp2077Arg
ENST00000458169.2:c.3655T>C	ENSP00000417017.2:p.Trp1219Arg
ENST00000458637.6:c.6115T>C	ENSP00000392185.2:p.Trp2039Arg
ENST00000481328.7:n.3765T>C
ENST00000526863.2:n.25+418T>C
ENST00000605744.1:n.1696T>C
NM_000260.3:c.6229T>C	NP_000251.3:p.Trp2077Arg
NM_001127180.1:c.6115T>C	NP_001120652.1:p.Trp2039Arg
XM_005274012.2:c.6112T>C	XP_005274069.1:p.Trp2038Arg
XM_006718558.2:c.6220T>C	XP_006718621.1:p.Trp2074Arg
XM_006718559.2:c.6115T>C	XP_006718622.1:p.Trp2039Arg
XM_006718560.2:c.6112T>C	XP_006718623.1:p.Trp2038Arg
XM_006718561.2:c.6115T>C	XP_006718624.1:p.Trp2039Arg
XM_011545044.1:c.6229T>C	XP_011543346.1:p.Trp2077Arg
XM_011545045.1:c.6223T>C	XP_011543347.1:p.Trp2075Arg
XM_011545046.1:c.6196T>C	XP_011543348.1:p.Trp2066Arg
XM_011545047.1:c.6133T>C	XP_011543349.1:p.Trp2045Arg
XM_011545048.1:c.6004T>C	XP_011543350.1:p.Trp2002Arg
XM_011545049.1:c.5992T>C	XP_011543351.1:p.Trp1998Arg
XM_011545050.1:c.5965T>C	XP_011543352.1:p.Trp1989Arg
XM_011545051.1:c.6229T>C	XP_011543353.1:p.Trp2077Arg
XR_949938.1:n.6549T>C
XR_949941.1:n.6523T>C
XM_011545044.2:c.6229T>C	XP_011543346.1:p.Trp2077Arg
XM_011545046.2:c.6319T>C	XP_011543348.2:p.Trp2107Arg
XM_011545050.2:c.5965T>C	XP_011543352.1:p.Trp1989Arg
XM_017017778.1:c.6313T>C	XP_016873267.1:p.Trp2105Arg
XM_017017779.1:c.6310T>C	XP_016873268.1:p.Trp2104Arg
XM_017017780.1:c.6319T>C	XP_016873269.1:p.Trp2107Arg
XM_017017781.1:c.6223T>C	XP_016873270.1:p.Trp2075Arg
XM_017017782.1:c.6205T>C	XP_016873271.1:p.Trp2069Arg
XM_017017783.1:c.6202T>C	XP_016873272.1:p.Trp2068Arg
XM_017017784.1:c.6202T>C	XP_016873273.1:p.Trp2068Arg
XM_017017785.1:c.6082T>C	XP_016873274.1:p.Trp2028Arg
XM_017017786.1:c.6319T>C	XP_016873275.1:p.Trp2107Arg
XM_017017788.1:c.6205T>C	XP_016873277.1:p.Trp2069Arg
XR_001747885.1:n.6308T>C
XR_001747887.1:n.6294T>C
NM_000260.4:c.6229T>C MANE Select	NP_000251.3:p.Trp2077Arg
NM_001127180.2:c.6115T>C	NP_001120652.1:p.Trp2039Arg
NM_001369365.1:c.6082T>C	NP_001356294.1:p.Trp2028Arg