Canonical Allele Identifier: CA381939553
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs1958049141

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214692A>T , CM000673.2:g.77214692A>T GRCh38
NC_000011.9:g.76925737A>T , CM000673.1:g.76925737A>T GRCh37
NC_000011.8:g.76603385A>T NCBI36
NG_009086.1:g.91428A>T
NG_009086.2:g.91447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6644A>T MANE Select ENSP00000386331.3:p.Lys2215Met
ENST00000670577.1:c.4445A>T
ENST00000409619.6:c.6497A>T ENSP00000386635.2:p.Lys2166Met
ENST00000409709.7:c.6644A>T ENSP00000386331.3:p.Lys2215Met
ENST00000458169.2:c.4070A>T ENSP00000417017.2:p.Lys1357Met
ENST00000458637.6:c.6524A>T ENSP00000392185.2:p.Lys2175Met
ENST00000481328.7:n.5194A>T
ENST00000605744.1:n.2158A>T
NM_000260.3:c.6644A>T NP_000251.3:p.Lys2215Met
NM_001127180.1:c.6524A>T NP_001120652.1:p.Lys2175Met
XM_005274012.2:c.6527A>T XP_005274069.1:p.Lys2176Met
XM_006718561.2:c.6530A>T XP_006718624.1:p.Lys2177Met
XR_949941.1:n.6938A>T
XM_017017780.1:c.6734A>T XP_016873269.1:p.Lys2245Met
XM_017017784.1:c.6617A>T XP_016873273.1:p.Lys2206Met
XM_017017788.1:c.6620A>T XP_016873277.1:p.Lys2207Met
XR_001747885.1:n.6723A>T
XR_001747887.1:n.6709A>T
NM_000260.4:c.6644A>T MANE Select NP_000251.3:p.Lys2215Met
NM_001127180.2:c.6524A>T NP_001120652.1:p.Lys2175Met
NM_001369365.1:c.6497A>T NP_001356294.1:p.Lys2166Met