Canonical Allele Identifier: CA381934700

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77208790-T-C
• MyVariant Identifiers: chr11:g.76919835T>C (hg19) ; chr11:g.77208790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208790T>C , CM000673.2:g.77208790T>C	GRCh38
NC_000011.9:g.76919835T>C , CM000673.1:g.76919835T>C	GRCh37
NC_000011.8:g.76597483T>C	NCBI36
NG_009086.1:g.85526T>C
NG_009086.2:g.85545T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6038T>C MANE Select	ENSP00000386331.3:p.Phe2013Ser
ENST00000670577.1:c.3839T>C
ENST00000409619.6:c.5891T>C	ENSP00000386635.2:p.Phe1964Ser
ENST00000409709.7:c.6038T>C	ENSP00000386331.3:p.Phe2013Ser
ENST00000458169.2:c.3464T>C	ENSP00000417017.2:p.Phe1155Ser
ENST00000458637.6:c.5924T>C	ENSP00000392185.2:p.Phe1975Ser
ENST00000481328.7:n.3574T>C
ENST00000605744.1:n.952T>C
NM_000260.3:c.6038T>C	NP_000251.3:p.Phe2013Ser
NM_001127180.1:c.5924T>C	NP_001120652.1:p.Phe1975Ser
XM_005274012.2:c.5921T>C	XP_005274069.1:p.Phe1974Ser
XM_006718558.2:c.6029T>C	XP_006718621.1:p.Phe2010Ser
XM_006718559.2:c.5924T>C	XP_006718622.1:p.Phe1975Ser
XM_006718560.2:c.5921T>C	XP_006718623.1:p.Phe1974Ser
XM_006718561.2:c.5924T>C	XP_006718624.1:p.Phe1975Ser
XM_011545044.1:c.6038T>C	XP_011543346.1:p.Phe2013Ser
XM_011545045.1:c.6032T>C	XP_011543347.1:p.Phe2011Ser
XM_011545046.1:c.6005T>C	XP_011543348.1:p.Phe2002Ser
XM_011545047.1:c.5942T>C	XP_011543349.1:p.Phe1981Ser
XM_011545048.1:c.5813T>C	XP_011543350.1:p.Phe1938Ser
XM_011545049.1:c.5801T>C	XP_011543351.1:p.Phe1934Ser
XM_011545050.1:c.5774T>C	XP_011543352.1:p.Phe1925Ser
XM_011545051.1:c.6038T>C	XP_011543353.1:p.Phe2013Ser
XR_949938.1:n.6358T>C
XR_949941.1:n.6332T>C
XM_011545044.2:c.6038T>C	XP_011543346.1:p.Phe2013Ser
XM_011545046.2:c.6128T>C	XP_011543348.2:p.Phe2043Ser
XM_011545050.2:c.5774T>C	XP_011543352.1:p.Phe1925Ser
XM_017017778.1:c.6122T>C	XP_016873267.1:p.Phe2041Ser
XM_017017779.1:c.6119T>C	XP_016873268.1:p.Phe2040Ser
XM_017017780.1:c.6128T>C	XP_016873269.1:p.Phe2043Ser
XM_017017781.1:c.6032T>C	XP_016873270.1:p.Phe2011Ser
XM_017017782.1:c.6014T>C	XP_016873271.1:p.Phe2005Ser
XM_017017783.1:c.6011T>C	XP_016873272.1:p.Phe2004Ser
XM_017017784.1:c.6011T>C	XP_016873273.1:p.Phe2004Ser
XM_017017785.1:c.5891T>C	XP_016873274.1:p.Phe1964Ser
XM_017017786.1:c.6128T>C	XP_016873275.1:p.Phe2043Ser
XM_017017788.1:c.6014T>C	XP_016873277.1:p.Phe2005Ser
XR_001747885.1:n.6117T>C
XR_001747886.1:n.6058T>C
XR_001747887.1:n.6103T>C
NM_000260.4:c.6038T>C MANE Select	NP_000251.3:p.Phe2013Ser
NM_001127180.2:c.5924T>C	NP_001120652.1:p.Phe1975Ser
NM_001369365.1:c.5891T>C	NP_001356294.1:p.Phe1964Ser