Canonical Allele Identifier: CA381947318

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76901170T>C (hg19) ; chr11:g.77190125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77190125T>C , CM000673.2:g.77190125T>C	GRCh38
NC_000011.9:g.76901170T>C , CM000673.1:g.76901170T>C	GRCh37
NC_000011.8:g.76578818T>C	NCBI36
NG_009086.1:g.66861T>C
NG_009086.2:g.66880T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3736T>C MANE Select	ENSP00000386331.3:p.Trp1246Arg
ENST00000670577.1:c.1577T>C
ENST00000409619.6:c.3703T>C	ENSP00000386635.2:p.Trp1235Arg
ENST00000409709.7:c.3736T>C	ENSP00000386331.3:p.Trp1246Arg
ENST00000458169.2:c.1279T>C	ENSP00000417017.2:p.Trp427Arg
ENST00000458637.6:c.3736T>C	ENSP00000392185.2:p.Trp1246Arg
ENST00000467137.1:n.263T>C
ENST00000481328.7:n.1279T>C
NM_000260.3:c.3736T>C	NP_000251.3:p.Trp1246Arg
NM_001127180.1:c.3736T>C	NP_001120652.1:p.Trp1246Arg
XM_005274012.2:c.3736T>C	XP_005274069.1:p.Trp1246Arg
XM_006718558.2:c.3736T>C	XP_006718621.1:p.Trp1246Arg
XM_006718559.2:c.3736T>C	XP_006718622.1:p.Trp1246Arg
XM_006718560.2:c.3736T>C	XP_006718623.1:p.Trp1246Arg
XM_006718561.2:c.3736T>C	XP_006718624.1:p.Trp1246Arg
XM_011545044.1:c.3736T>C	XP_011543346.1:p.Trp1246Arg
XM_011545045.1:c.3736T>C	XP_011543347.1:p.Trp1246Arg
XM_011545046.1:c.3703T>C	XP_011543348.1:p.Trp1235Arg
XM_011545047.1:c.3646T>C	XP_011543349.1:p.Trp1216Arg
XM_011545048.1:c.3517T>C	XP_011543350.1:p.Trp1173Arg
XM_011545049.1:c.3505T>C	XP_011543351.1:p.Trp1169Arg
XM_011545050.1:c.3478T>C	XP_011543352.1:p.Trp1160Arg
XM_011545051.1:c.3736T>C	XP_011543353.1:p.Trp1246Arg
XM_011545052.1:c.3736T>C	XP_011543354.1:p.Trp1246Arg
XR_949938.1:n.4056T>C
XR_949941.1:n.4056T>C
XR_949942.1:n.4058T>C
XR_949943.1:n.4058T>C
XM_011545044.2:c.3736T>C	XP_011543346.1:p.Trp1246Arg
XM_011545046.2:c.3826T>C	XP_011543348.2:p.Trp1276Arg
XM_011545050.2:c.3478T>C	XP_011543352.1:p.Trp1160Arg
XM_017017778.1:c.3826T>C	XP_016873267.1:p.Trp1276Arg
XM_017017779.1:c.3826T>C	XP_016873268.1:p.Trp1276Arg
XM_017017780.1:c.3826T>C	XP_016873269.1:p.Trp1276Arg
XM_017017781.1:c.3736T>C	XP_016873270.1:p.Trp1246Arg
XM_017017782.1:c.3826T>C	XP_016873271.1:p.Trp1276Arg
XM_017017783.1:c.3826T>C	XP_016873272.1:p.Trp1276Arg
XM_017017784.1:c.3826T>C	XP_016873273.1:p.Trp1276Arg
XM_017017785.1:c.3595T>C	XP_016873274.1:p.Trp1199Arg
XM_017017786.1:c.3826T>C	XP_016873275.1:p.Trp1276Arg
XM_017017787.1:c.3826T>C	XP_016873276.1:p.Trp1276Arg
XM_017017788.1:c.3826T>C	XP_016873277.1:p.Trp1276Arg
XR_001747885.1:n.3841T>C
XR_001747886.1:n.3841T>C
XR_001747887.1:n.3841T>C
XR_001747888.1:n.3841T>C
XR_001747889.1:n.3841T>C
NM_000260.4:c.3736T>C MANE Select	NP_000251.3:p.Trp1246Arg
NM_001127180.2:c.3736T>C	NP_001120652.1:p.Trp1246Arg
NM_001369365.1:c.3703T>C	NP_001356294.1:p.Trp1235Arg