Canonical Allele Identifier: CA2038693841
Community Standard Title: NM_005379.4(MYO1A):c.916G= (p.Val306=)
Gene: MYO1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57043335C= , CM000674.2:g.57043335C= GRCh38
NC_000012.11:g.57437119C= , CM000674.1:g.57437119C= GRCh37
NC_000012.10:g.55723386C= NCBI36
NG_012104.1:g.11775G=

Transcript Alleles

HGVS Amino-acid Change
NM_005379.4:c.916G= MANE Select NP_005370.1:p.Val306=
ENST00000300119.8:c.916G= MANE Select ENSP00000300119.3:p.Val306=
NM_001256041.1:c.916G= NP_001242970.1:p.Val306=
NM_001256041.2:c.916G= NP_001242970.1:p.Val306=
NM_005379.3:c.916G= NP_005370.1:p.Val306=
ENST00000300119.7:c.916G= ENSP00000300119.3:p.Val306=
ENST00000442789.6:c.916G= ENSP00000393392.2:p.Val306=
ENST00000492945.5:c.4G= ENSP00000452229.1:p.Val2=
ENST00000554234.5:c.430G= ENSP00000451033.1:p.Val144=
XM_011538373.1:c.916G= XP_011536675.1:p.Val306=
XM_011538373.2:c.916G= XP_011536675.1:p.Val306=