Canonical Allele Identifier: CA6198938

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211211G>A , CM000673.2:g.77211211G>A	GRCh38
NC_000011.9:g.76922256G>A , CM000673.1:g.76922256G>A	GRCh37
NC_000011.8:g.76599904G>A	NCBI36
NG_009086.1:g.87947G>A
NG_009086.2:g.87966G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6111G>A MANE Select	NP_000251.3:p.Leu2037=
ENST00000409709.9:c.6111G>A MANE Select	ENSP00000386331.3:p.Leu2037=
NM_000260.3:c.6111G>A	NP_000251.3:p.Leu2037=
NM_001127180.1:c.5997G>A	NP_001120652.1:p.Leu1999=
NM_001127180.2:c.5997G>A	NP_001120652.1:p.Leu1999=
NM_001369365.1:c.5964G>A	NP_001356294.1:p.Leu1988=
ENST00000409619.6:c.5964G>A	ENSP00000386635.2:p.Leu1988=
ENST00000409709.7:c.6111G>A	ENSP00000386331.3:p.Leu2037=
ENST00000458169.2:c.3537G>A	ENSP00000417017.2:p.Leu1179=
ENST00000458637.6:c.5997G>A	ENSP00000392185.2:p.Leu1999=
ENST00000481328.7:n.3647G>A
ENST00000526863.2:n.25+300G>A
ENST00000605744.1:n.1578G>A
ENST00000670577.1:c.3912G>A
XM_005274012.2:c.5994G>A	XP_005274069.1:p.Leu1998=
XM_006718558.2:c.6102G>A	XP_006718621.1:p.Leu2034=
XM_006718559.2:c.5997G>A	XP_006718622.1:p.Leu1999=
XM_006718560.2:c.5994G>A	XP_006718623.1:p.Leu1998=
XM_006718561.2:c.5997G>A	XP_006718624.1:p.Leu1999=
XM_011545044.1:c.6111G>A	XP_011543346.1:p.Leu2037=
XM_011545044.2:c.6111G>A	XP_011543346.1:p.Leu2037=
XM_011545045.1:c.6105G>A	XP_011543347.1:p.Leu2035=
XM_011545046.1:c.6078G>A	XP_011543348.1:p.Leu2026=
XM_011545046.2:c.6201G>A	XP_011543348.2:p.Leu2067=
XM_011545047.1:c.6015G>A	XP_011543349.1:p.Leu2005=
XM_011545048.1:c.5886G>A	XP_011543350.1:p.Leu1962=
XM_011545049.1:c.5874G>A	XP_011543351.1:p.Leu1958=
XM_011545050.1:c.5847G>A	XP_011543352.1:p.Leu1949=
XM_011545050.2:c.5847G>A	XP_011543352.1:p.Leu1949=
XM_011545051.1:c.6111G>A	XP_011543353.1:p.Leu2037=
XM_017017778.1:c.6195G>A	XP_016873267.1:p.Leu2065=
XM_017017779.1:c.6192G>A	XP_016873268.1:p.Leu2064=
XM_017017780.1:c.6201G>A	XP_016873269.1:p.Leu2067=
XM_017017781.1:c.6105G>A	XP_016873270.1:p.Leu2035=
XM_017017782.1:c.6087G>A	XP_016873271.1:p.Leu2029=
XM_017017783.1:c.6084G>A	XP_016873272.1:p.Leu2028=
XM_017017784.1:c.6084G>A	XP_016873273.1:p.Leu2028=
XM_017017785.1:c.5964G>A	XP_016873274.1:p.Leu1988=
XM_017017786.1:c.6201G>A	XP_016873275.1:p.Leu2067=
XM_017017788.1:c.6087G>A	XP_016873277.1:p.Leu2029=
XR_001747885.1:n.6190G>A
XR_001747886.1:n.6131G>A
XR_001747887.1:n.6176G>A
XR_949938.1:n.6431G>A
XR_949941.1:n.6405G>A