Canonical Allele Identifier: CA381935936

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922294A>C (hg19) ; chr11:g.77211249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211249A>C , CM000673.2:g.77211249A>C	GRCh38
NC_000011.9:g.76922294A>C , CM000673.1:g.76922294A>C	GRCh37
NC_000011.8:g.76599942A>C	NCBI36
NG_009086.1:g.87985A>C
NG_009086.2:g.88004A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6149A>C MANE Select	ENSP00000386331.3:p.Lys2050Thr
ENST00000670577.1:c.3950A>C
ENST00000409619.6:c.6002A>C	ENSP00000386635.2:p.Lys2001Thr
ENST00000409709.7:c.6149A>C	ENSP00000386331.3:p.Lys2050Thr
ENST00000458169.2:c.3575A>C	ENSP00000417017.2:p.Lys1192Thr
ENST00000458637.6:c.6035A>C	ENSP00000392185.2:p.Lys2012Thr
ENST00000481328.7:n.3685A>C
ENST00000526863.2:n.25+338A>C
ENST00000605744.1:n.1616A>C
NM_000260.3:c.6149A>C	NP_000251.3:p.Lys2050Thr
NM_001127180.1:c.6035A>C	NP_001120652.1:p.Lys2012Thr
XM_005274012.2:c.6032A>C	XP_005274069.1:p.Lys2011Thr
XM_006718558.2:c.6140A>C	XP_006718621.1:p.Lys2047Thr
XM_006718559.2:c.6035A>C	XP_006718622.1:p.Lys2012Thr
XM_006718560.2:c.6032A>C	XP_006718623.1:p.Lys2011Thr
XM_006718561.2:c.6035A>C	XP_006718624.1:p.Lys2012Thr
XM_011545044.1:c.6149A>C	XP_011543346.1:p.Lys2050Thr
XM_011545045.1:c.6143A>C	XP_011543347.1:p.Lys2048Thr
XM_011545046.1:c.6116A>C	XP_011543348.1:p.Lys2039Thr
XM_011545047.1:c.6053A>C	XP_011543349.1:p.Lys2018Thr
XM_011545048.1:c.5924A>C	XP_011543350.1:p.Lys1975Thr
XM_011545049.1:c.5912A>C	XP_011543351.1:p.Lys1971Thr
XM_011545050.1:c.5885A>C	XP_011543352.1:p.Lys1962Thr
XM_011545051.1:c.6149A>C	XP_011543353.1:p.Lys2050Thr
XR_949938.1:n.6469A>C
XR_949941.1:n.6443A>C
XM_011545044.2:c.6149A>C	XP_011543346.1:p.Lys2050Thr
XM_011545046.2:c.6239A>C	XP_011543348.2:p.Lys2080Thr
XM_011545050.2:c.5885A>C	XP_011543352.1:p.Lys1962Thr
XM_017017778.1:c.6233A>C	XP_016873267.1:p.Lys2078Thr
XM_017017779.1:c.6230A>C	XP_016873268.1:p.Lys2077Thr
XM_017017780.1:c.6239A>C	XP_016873269.1:p.Lys2080Thr
XM_017017781.1:c.6143A>C	XP_016873270.1:p.Lys2048Thr
XM_017017782.1:c.6125A>C	XP_016873271.1:p.Lys2042Thr
XM_017017783.1:c.6122A>C	XP_016873272.1:p.Lys2041Thr
XM_017017784.1:c.6122A>C	XP_016873273.1:p.Lys2041Thr
XM_017017785.1:c.6002A>C	XP_016873274.1:p.Lys2001Thr
XM_017017786.1:c.6239A>C	XP_016873275.1:p.Lys2080Thr
XM_017017788.1:c.6125A>C	XP_016873277.1:p.Lys2042Thr
XR_001747885.1:n.6228A>C
XR_001747886.1:n.6169A>C
XR_001747887.1:n.6214A>C
NM_000260.4:c.6149A>C MANE Select	NP_000251.3:p.Lys2050Thr
NM_001127180.2:c.6035A>C	NP_001120652.1:p.Lys2012Thr
NM_001369365.1:c.6002A>C	NP_001356294.1:p.Lys2001Thr