Canonical Allele Identifier: CA475791715

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77208791-C-T
• MyVariant Identifiers: chr11:g.76919836C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208791C>T , CM000673.2:g.77208791C>T	GRCh38
NC_000011.9:g.76919836C>T , CM000673.1:g.76919836C>T	GRCh37
NC_000011.8:g.76597484C>T	NCBI36
NG_009086.1:g.85527C>T
NG_009086.2:g.85546C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6039C>T MANE Select	ENSP00000386331.3:p.Phe2013=
ENST00000670577.1:c.3840C>T
ENST00000409619.6:c.5892C>T	ENSP00000386635.2:p.Phe1964=
ENST00000409709.7:c.6039C>T	ENSP00000386331.3:p.Phe2013=
ENST00000458169.2:c.3465C>T	ENSP00000417017.2:p.Phe1155=
ENST00000458637.6:c.5925C>T	ENSP00000392185.2:p.Phe1975=
ENST00000481328.7:n.3575C>T
ENST00000605744.1:n.953C>T
NM_000260.3:c.6039C>T	NP_000251.3:p.Phe2013=
NM_001127180.1:c.5925C>T	NP_001120652.1:p.Phe1975=
XM_005274012.2:c.5922C>T	XP_005274069.1:p.Phe1974=
XM_006718558.2:c.6030C>T	XP_006718621.1:p.Phe2010=
XM_006718559.2:c.5925C>T	XP_006718622.1:p.Phe1975=
XM_006718560.2:c.5922C>T	XP_006718623.1:p.Phe1974=
XM_006718561.2:c.5925C>T	XP_006718624.1:p.Phe1975=
XM_011545044.1:c.6039C>T	XP_011543346.1:p.Phe2013=
XM_011545045.1:c.6033C>T	XP_011543347.1:p.Phe2011=
XM_011545046.1:c.6006C>T	XP_011543348.1:p.Phe2002=
XM_011545047.1:c.5943C>T	XP_011543349.1:p.Phe1981=
XM_011545048.1:c.5814C>T	XP_011543350.1:p.Phe1938=
XM_011545049.1:c.5802C>T	XP_011543351.1:p.Phe1934=
XM_011545050.1:c.5775C>T	XP_011543352.1:p.Phe1925=
XM_011545051.1:c.6039C>T	XP_011543353.1:p.Phe2013=
XR_949938.1:n.6359C>T
XR_949941.1:n.6333C>T
XM_011545044.2:c.6039C>T	XP_011543346.1:p.Phe2013=
XM_011545046.2:c.6129C>T	XP_011543348.2:p.Phe2043=
XM_011545050.2:c.5775C>T	XP_011543352.1:p.Phe1925=
XM_017017778.1:c.6123C>T	XP_016873267.1:p.Phe2041=
XM_017017779.1:c.6120C>T	XP_016873268.1:p.Phe2040=
XM_017017780.1:c.6129C>T	XP_016873269.1:p.Phe2043=
XM_017017781.1:c.6033C>T	XP_016873270.1:p.Phe2011=
XM_017017782.1:c.6015C>T	XP_016873271.1:p.Phe2005=
XM_017017783.1:c.6012C>T	XP_016873272.1:p.Phe2004=
XM_017017784.1:c.6012C>T	XP_016873273.1:p.Phe2004=
XM_017017785.1:c.5892C>T	XP_016873274.1:p.Phe1964=
XM_017017786.1:c.6129C>T	XP_016873275.1:p.Phe2043=
XM_017017788.1:c.6015C>T	XP_016873277.1:p.Phe2005=
XR_001747885.1:n.6118C>T
XR_001747886.1:n.6059C>T
XR_001747887.1:n.6104C>T
NM_000260.4:c.6039C>T MANE Select	NP_000251.3:p.Phe2013=
NM_001127180.2:c.5925C>T	NP_001120652.1:p.Phe1975=
NM_001369365.1:c.5892C>T	NP_001356294.1:p.Phe1964=