Canonical Allele Identifier: CA6640180

Gene: MYO1A

Linked Data

• dbSNP Id: rs371281259
• ExAC: 12:57435182 A / G
• gnomAD v2: 12-57435182-A-G
• gnomAD v3: 12-57041398-A-G
• gnomAD v4: 12-57041398-A-G
• MyVariant Identifiers: chr12:g.57435182A>G (hg19) ; chr12:g.57041398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041398A>G , CM000674.2:g.57041398A>G	GRCh38
NC_000012.11:g.57435182A>G , CM000674.1:g.57435182A>G	GRCh37
NC_000012.10:g.55721449A>G	NCBI36
NG_012104.1:g.13712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1164+34T>C MANE Select	ENSP00000300119.3:n.1164+34T>C
ENST00000300119.7:c.1164+34T>C	ENSP00000300119.3:n.1164+34T>C
ENST00000442789.6:c.1164+34T>C	ENSP00000393392.2:n.1164+34T>C
ENST00000554234.5:c.678+34T>C	ENSP00000451033.1:n.678+34T>C
NM_001256041.1:c.1164+34T>C	NP_001242970.1:n.1164+34T>C
NM_005379.3:c.1164+34T>C	NP_005370.1:n.1164+34T>C
XM_011538373.1:c.1164+34T>C	XP_011536675.1:n.1164+34T>C
XM_011538373.2:c.1164+34T>C	XP_011536675.1:n.1164+34T>C
NM_005379.4:c.1164+34T>C MANE Select	NP_005370.1:n.1164+34T>C
NM_001256041.2:c.1164+34T>C	NP_001242970.1:n.1164+34T>C