Canonical Allele Identifier: CA381935848

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922272A>T (hg19) ; chr11:g.77211227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211227A>T , CM000673.2:g.77211227A>T	GRCh38
NC_000011.9:g.76922272A>T , CM000673.1:g.76922272A>T	GRCh37
NC_000011.8:g.76599920A>T	NCBI36
NG_009086.1:g.87963A>T
NG_009086.2:g.87982A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6127A>T MANE Select	ENSP00000386331.3:p.Arg2043Trp
ENST00000670577.1:c.3928A>T
ENST00000409619.6:c.5980A>T	ENSP00000386635.2:p.Arg1994Trp
ENST00000409709.7:c.6127A>T	ENSP00000386331.3:p.Arg2043Trp
ENST00000458169.2:c.3553A>T	ENSP00000417017.2:p.Arg1185Trp
ENST00000458637.6:c.6013A>T	ENSP00000392185.2:p.Arg2005Trp
ENST00000481328.7:n.3663A>T
ENST00000526863.2:n.25+316A>T
ENST00000605744.1:n.1594A>T
NM_000260.3:c.6127A>T	NP_000251.3:p.Arg2043Trp
NM_001127180.1:c.6013A>T	NP_001120652.1:p.Arg2005Trp
XM_005274012.2:c.6010A>T	XP_005274069.1:p.Arg2004Trp
XM_006718558.2:c.6118A>T	XP_006718621.1:p.Arg2040Trp
XM_006718559.2:c.6013A>T	XP_006718622.1:p.Arg2005Trp
XM_006718560.2:c.6010A>T	XP_006718623.1:p.Arg2004Trp
XM_006718561.2:c.6013A>T	XP_006718624.1:p.Arg2005Trp
XM_011545044.1:c.6127A>T	XP_011543346.1:p.Arg2043Trp
XM_011545045.1:c.6121A>T	XP_011543347.1:p.Arg2041Trp
XM_011545046.1:c.6094A>T	XP_011543348.1:p.Arg2032Trp
XM_011545047.1:c.6031A>T	XP_011543349.1:p.Arg2011Trp
XM_011545048.1:c.5902A>T	XP_011543350.1:p.Arg1968Trp
XM_011545049.1:c.5890A>T	XP_011543351.1:p.Arg1964Trp
XM_011545050.1:c.5863A>T	XP_011543352.1:p.Arg1955Trp
XM_011545051.1:c.6127A>T	XP_011543353.1:p.Arg2043Trp
XR_949938.1:n.6447A>T
XR_949941.1:n.6421A>T
XM_011545044.2:c.6127A>T	XP_011543346.1:p.Arg2043Trp
XM_011545046.2:c.6217A>T	XP_011543348.2:p.Arg2073Trp
XM_011545050.2:c.5863A>T	XP_011543352.1:p.Arg1955Trp
XM_017017778.1:c.6211A>T	XP_016873267.1:p.Arg2071Trp
XM_017017779.1:c.6208A>T	XP_016873268.1:p.Arg2070Trp
XM_017017780.1:c.6217A>T	XP_016873269.1:p.Arg2073Trp
XM_017017781.1:c.6121A>T	XP_016873270.1:p.Arg2041Trp
XM_017017782.1:c.6103A>T	XP_016873271.1:p.Arg2035Trp
XM_017017783.1:c.6100A>T	XP_016873272.1:p.Arg2034Trp
XM_017017784.1:c.6100A>T	XP_016873273.1:p.Arg2034Trp
XM_017017785.1:c.5980A>T	XP_016873274.1:p.Arg1994Trp
XM_017017786.1:c.6217A>T	XP_016873275.1:p.Arg2073Trp
XM_017017788.1:c.6103A>T	XP_016873277.1:p.Arg2035Trp
XR_001747885.1:n.6206A>T
XR_001747886.1:n.6147A>T
XR_001747887.1:n.6192A>T
NM_000260.4:c.6127A>T MANE Select	NP_000251.3:p.Arg2043Trp
NM_001127180.2:c.6013A>T	NP_001120652.1:p.Arg2005Trp
NM_001369365.1:c.5980A>T	NP_001356294.1:p.Arg1994Trp