Canonical Allele Identifier: CA177327
Community Standard Title: NM_005379.4(MYO1A):c.-11C>T
Gene: MYO1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57048334G>A , CM000674.2:g.57048334G>A GRCh38
NC_000012.11:g.57442118G>A , CM000674.1:g.57442118G>A GRCh37
NC_000012.10:g.55728385G>A NCBI36
NG_012104.1:g.6776C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005379.4:c.-11C>T MANE Select NP_005370.1:n.-11C>T
ENST00000300119.8:c.-11C>T MANE Select ENSP00000300119.3:n.-11C>T
NM_001256041.1:c.-11C>T NP_001242970.1:n.-11C>T
NM_001256041.2:c.-11C>T NP_001242970.1:n.-11C>T
NM_005379.3:c.-11C>T NP_005370.1:n.-11C>T
ENST00000300119.7:c.-11C>T ENSP00000300119.3:n.-11C>T
ENST00000433964.5:c.-11C>T ENSP00000400991.1:n.-11C>T
ENST00000442789.6:c.-11C>T ENSP00000393392.2:n.-11C>T
ENST00000471791.1:n.284C>T
ENST00000492945.5:c.-21+1553C>T ENSP00000452229.1:n.-21+1553C>T
XM_011538373.1:c.-11C>T XP_011536675.1:n.-11C>T
XM_011538373.2:c.-11C>T XP_011536675.1:n.-11C>T