Canonical Allele Identifier: CA2038701788
Community Standard Title: NM_005379.4(MYO1A):c.277C= (p.Arg93=)
Gene: MYO1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57047675G= , CM000674.2:g.57047675G= GRCh38
NC_000012.11:g.57441459G= , CM000674.1:g.57441459G= GRCh37
NC_000012.10:g.55727726G= NCBI36
NG_012104.1:g.7435C=

Transcript Alleles

HGVS Amino-acid Change
NM_005379.4:c.277C= MANE Select NP_005370.1:p.Arg93=
ENST00000300119.8:c.277C= MANE Select ENSP00000300119.3:p.Arg93=
NM_001256041.1:c.277C= NP_001242970.1:p.Arg93=
NM_001256041.2:c.277C= NP_001242970.1:p.Arg93=
NM_005379.3:c.277C= NP_005370.1:p.Arg93=
ENST00000300119.7:c.277C= ENSP00000300119.3:p.Arg93=
ENST00000433964.5:c.277C= ENSP00000400991.1:p.Arg93=
ENST00000442789.6:c.277C= ENSP00000393392.2:p.Arg93=
ENST00000492945.5:c.-21+2212C= ENSP00000452229.1:n.-21+2212C=
ENST00000554234.5:c.-163C= ENSP00000451033.1:n.-163C=
XM_011538373.1:c.277C= XP_011536675.1:p.Arg93=
XM_011538373.2:c.277C= XP_011536675.1:p.Arg93=