Canonical Allele Identifier: CA385383415

Gene: MYO1A

Linked Data

• gnomAD v4: 12-57041455-T-C
• MyVariant Identifiers: chr12:g.57435239T>C (hg19) ; chr12:g.57041455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041455T>C , CM000674.2:g.57041455T>C	GRCh38
NC_000012.11:g.57435239T>C , CM000674.1:g.57435239T>C	GRCh37
NC_000012.10:g.55721506T>C	NCBI36
NG_012104.1:g.13655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1141A>G MANE Select	ENSP00000300119.3:p.Ile381Val
ENST00000300119.7:c.1141A>G	ENSP00000300119.3:p.Ile381Val
ENST00000442789.6:c.1141A>G	ENSP00000393392.2:p.Ile381Val
ENST00000554234.5:c.655A>G	ENSP00000451033.1:p.Ile219Val
NM_001256041.1:c.1141A>G	NP_001242970.1:p.Ile381Val
NM_005379.3:c.1141A>G	NP_005370.1:p.Ile381Val
XM_011538373.1:c.1141A>G	XP_011536675.1:p.Ile381Val
XM_011538373.2:c.1141A>G	XP_011536675.1:p.Ile381Val
NM_005379.4:c.1141A>G MANE Select	NP_005370.1:p.Ile381Val
NM_001256041.2:c.1141A>G	NP_001242970.1:p.Ile381Val