Canonical Allele Identifier: CA381937619

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213023T>G , CM000673.2:g.77213023T>G	GRCh38
NC_000011.9:g.76924068T>G , CM000673.1:g.76924068T>G	GRCh37
NC_000011.8:g.76601716T>G	NCBI36
NG_009086.1:g.89759T>G
NG_009086.2:g.89778T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6426T>G MANE Select	NP_000251.3:p.Asp2142Glu
ENST00000409709.9:c.6426T>G MANE Select	ENSP00000386331.3:p.Asp2142Glu
NM_000260.3:c.6426T>G	NP_000251.3:p.Asp2142Glu
NM_001127180.1:c.6306T>G	NP_001120652.1:p.Asp2102Glu
NM_001127180.2:c.6306T>G	NP_001120652.1:p.Asp2102Glu
NM_001369365.1:c.6279T>G	NP_001356294.1:p.Asp2093Glu
ENST00000409619.6:c.6279T>G	ENSP00000386635.2:p.Asp2093Glu
ENST00000409709.7:c.6426T>G	ENSP00000386331.3:p.Asp2142Glu
ENST00000458169.2:c.3852T>G	ENSP00000417017.2:p.Asp1284Glu
ENST00000458637.6:c.6306T>G	ENSP00000392185.2:p.Asp2102Glu
ENST00000481328.7:n.4976T>G
ENST00000481532.1:n.489T>G
ENST00000605744.1:n.1940T>G
ENST00000670577.1:c.4227T>G
XM_005274012.2:c.6309T>G	XP_005274069.1:p.Asp2103Glu
XM_006718561.2:c.6312T>G	XP_006718624.1:p.Asp2104Glu
XM_011545051.1:c.*98T>G	XP_011543353.1:n.*98T>G
XM_017017780.1:c.6516T>G	XP_016873269.1:p.Asp2172Glu
XM_017017784.1:c.6399T>G	XP_016873273.1:p.Asp2133Glu
XM_017017786.1:c.*98T>G	XP_016873275.1:n.*98T>G
XM_017017788.1:c.6402T>G	XP_016873277.1:p.Asp2134Glu
XR_001747885.1:n.6505T>G
XR_001747887.1:n.6491T>G
XR_949941.1:n.6720T>G