Canonical Allele Identifier: CA2038690790
Gene: MYO1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57041464C= , CM000674.2:g.57041464C= GRCh38
NC_000012.11:g.57435248C= , CM000674.1:g.57435248C= GRCh37
NC_000012.10:g.55721515C= NCBI36
NG_012104.1:g.13646G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300119.8:c.1132G= MANE Select ENSP00000300119.3:p.Val378=
ENST00000300119.7:c.1132G= ENSP00000300119.3:p.Val378=
ENST00000442789.6:c.1132G= ENSP00000393392.2:p.Val378=
ENST00000492945.5:c.220G=
ENST00000554234.5:c.646G= ENSP00000451033.1:p.Val216=
NM_001256041.1:c.1132G= NP_001242970.1:p.Val378=
NM_005379.3:c.1132G= NP_005370.1:p.Val378=
XM_011538373.1:c.1132G= XP_011536675.1:p.Val378=
XM_011538373.2:c.1132G= XP_011536675.1:p.Val378=
NM_005379.4:c.1132G= MANE Select NP_005370.1:p.Val378=
NM_001256041.2:c.1132G= NP_001242970.1:p.Val378=