Canonical Allele Identifier: CA605703170

Gene: MYO1A

Linked Data

• dbSNP Id: rs1175370256
• gnomAD v2: 12-57435196-C-T
• gnomAD v3: 12-57041412-C-T
• gnomAD v4: 12-57041412-C-T
• MyVariant Identifiers: chr12:g.57435196C>T (hg19) ; chr12:g.57041412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041412C>T , CM000674.2:g.57041412C>T	GRCh38
NC_000012.11:g.57435196C>T , CM000674.1:g.57435196C>T	GRCh37
NC_000012.10:g.55721463C>T	NCBI36
NG_012104.1:g.13698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1164+20G>A MANE Select	ENSP00000300119.3:n.1164+20G>A
ENST00000300119.7:c.1164+20G>A	ENSP00000300119.3:n.1164+20G>A
ENST00000442789.6:c.1164+20G>A	ENSP00000393392.2:n.1164+20G>A
ENST00000554234.5:c.678+20G>A	ENSP00000451033.1:n.678+20G>A
NM_001256041.1:c.1164+20G>A	NP_001242970.1:n.1164+20G>A
NM_005379.3:c.1164+20G>A	NP_005370.1:n.1164+20G>A
XM_011538373.1:c.1164+20G>A	XP_011536675.1:n.1164+20G>A
XM_011538373.2:c.1164+20G>A	XP_011536675.1:n.1164+20G>A
NM_005379.4:c.1164+20G>A MANE Select	NP_005370.1:n.1164+20G>A
NM_001256041.2:c.1164+20G>A	NP_001242970.1:n.1164+20G>A