Canonical Allele Identifier: CA381935882

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211236-T-A
• MyVariant Identifiers: chr11:g.76922281T>A (hg19) ; chr11:g.77211236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211236T>A , CM000673.2:g.77211236T>A	GRCh38
NC_000011.9:g.76922281T>A , CM000673.1:g.76922281T>A	GRCh37
NC_000011.8:g.76599929T>A	NCBI36
NG_009086.1:g.87972T>A
NG_009086.2:g.87991T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6136T>A MANE Select	ENSP00000386331.3:p.Phe2046Ile
ENST00000670577.1:c.3937T>A
ENST00000409619.6:c.5989T>A	ENSP00000386635.2:p.Phe1997Ile
ENST00000409709.7:c.6136T>A	ENSP00000386331.3:p.Phe2046Ile
ENST00000458169.2:c.3562T>A	ENSP00000417017.2:p.Phe1188Ile
ENST00000458637.6:c.6022T>A	ENSP00000392185.2:p.Phe2008Ile
ENST00000481328.7:n.3672T>A
ENST00000526863.2:n.25+325T>A
ENST00000605744.1:n.1603T>A
NM_000260.3:c.6136T>A	NP_000251.3:p.Phe2046Ile
NM_001127180.1:c.6022T>A	NP_001120652.1:p.Phe2008Ile
XM_005274012.2:c.6019T>A	XP_005274069.1:p.Phe2007Ile
XM_006718558.2:c.6127T>A	XP_006718621.1:p.Phe2043Ile
XM_006718559.2:c.6022T>A	XP_006718622.1:p.Phe2008Ile
XM_006718560.2:c.6019T>A	XP_006718623.1:p.Phe2007Ile
XM_006718561.2:c.6022T>A	XP_006718624.1:p.Phe2008Ile
XM_011545044.1:c.6136T>A	XP_011543346.1:p.Phe2046Ile
XM_011545045.1:c.6130T>A	XP_011543347.1:p.Phe2044Ile
XM_011545046.1:c.6103T>A	XP_011543348.1:p.Phe2035Ile
XM_011545047.1:c.6040T>A	XP_011543349.1:p.Phe2014Ile
XM_011545048.1:c.5911T>A	XP_011543350.1:p.Phe1971Ile
XM_011545049.1:c.5899T>A	XP_011543351.1:p.Phe1967Ile
XM_011545050.1:c.5872T>A	XP_011543352.1:p.Phe1958Ile
XM_011545051.1:c.6136T>A	XP_011543353.1:p.Phe2046Ile
XR_949938.1:n.6456T>A
XR_949941.1:n.6430T>A
XM_011545044.2:c.6136T>A	XP_011543346.1:p.Phe2046Ile
XM_011545046.2:c.6226T>A	XP_011543348.2:p.Phe2076Ile
XM_011545050.2:c.5872T>A	XP_011543352.1:p.Phe1958Ile
XM_017017778.1:c.6220T>A	XP_016873267.1:p.Phe2074Ile
XM_017017779.1:c.6217T>A	XP_016873268.1:p.Phe2073Ile
XM_017017780.1:c.6226T>A	XP_016873269.1:p.Phe2076Ile
XM_017017781.1:c.6130T>A	XP_016873270.1:p.Phe2044Ile
XM_017017782.1:c.6112T>A	XP_016873271.1:p.Phe2038Ile
XM_017017783.1:c.6109T>A	XP_016873272.1:p.Phe2037Ile
XM_017017784.1:c.6109T>A	XP_016873273.1:p.Phe2037Ile
XM_017017785.1:c.5989T>A	XP_016873274.1:p.Phe1997Ile
XM_017017786.1:c.6226T>A	XP_016873275.1:p.Phe2076Ile
XM_017017788.1:c.6112T>A	XP_016873277.1:p.Phe2038Ile
XR_001747885.1:n.6215T>A
XR_001747886.1:n.6156T>A
XR_001747887.1:n.6201T>A
NM_000260.4:c.6136T>A MANE Select	NP_000251.3:p.Phe2046Ile
NM_001127180.2:c.6022T>A	NP_001120652.1:p.Phe2008Ile
NM_001369365.1:c.5989T>A	NP_001356294.1:p.Phe1997Ile