Canonical Allele Identifier: CA385383317
Gene: MYO1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57435225C>G (hg19) chr12:g.57041441C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57041441C>G , CM000674.2:g.57041441C>G GRCh38
NC_000012.11:g.57435225C>G , CM000674.1:g.57435225C>G GRCh37
NC_000012.10:g.55721492C>G NCBI36
NG_012104.1:g.13669G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300119.8:c.1155G>C MANE Select ENSP00000300119.3:p.Glu385Asp
ENST00000300119.7:c.1155G>C ENSP00000300119.3:p.Glu385Asp
ENST00000442789.6:c.1155G>C ENSP00000393392.2:p.Glu385Asp
ENST00000554234.5:c.669G>C ENSP00000451033.1:p.Glu223Asp
NM_001256041.1:c.1155G>C NP_001242970.1:p.Glu385Asp
NM_005379.3:c.1155G>C NP_005370.1:p.Glu385Asp
XM_011538373.1:c.1155G>C XP_011536675.1:p.Glu385Asp
XM_011538373.2:c.1155G>C XP_011536675.1:p.Glu385Asp
NM_005379.4:c.1155G>C MANE Select NP_005370.1:p.Glu385Asp
NM_001256041.2:c.1155G>C NP_001242970.1:p.Glu385Asp
Search 100 bp 5'
Search 100 bp 3'