Canonical Allele Identifier: CA177313

Gene: MYO1A

Linked Data

• ClinVar Variation Id: 164594
• ClinVar RCV Id: RCV000151446 ; RCV000904371
• dbSNP Id: rs12297756
• ExAC: 12:57432609 C / G
• gnomAD v2: 12-57432609-C-G
• gnomAD v3: 12-57038825-C-G
• gnomAD v4: 12-57038825-C-G
• MyVariant Identifiers: chr12:g.57432609C>G (hg19) ; chr12:g.57038825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57038825C>G , CM000674.2:g.57038825C>G	GRCh38
NC_000012.11:g.57432609C>G , CM000674.1:g.57432609C>G	GRCh37
NC_000012.10:g.55718876C>G	NCBI36
NG_012104.1:g.16285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1517G>C MANE Select	ENSP00000300119.3:p.Cys506Ser
ENST00000300119.7:c.1517G>C	ENSP00000300119.3:p.Cys506Ser
ENST00000442789.6:c.1517G>C	ENSP00000393392.2:p.Cys506Ser
ENST00000476795.1:n.414G>C
ENST00000554234.5:c.1031G>C	ENSP00000451033.1:p.Cys344Ser
NM_001256041.1:c.1517G>C	NP_001242970.1:p.Cys506Ser
NM_005379.3:c.1517G>C	NP_005370.1:p.Cys506Ser
XM_011538373.1:c.1517G>C	XP_011536675.1:p.Cys506Ser
XM_011538373.2:c.1517G>C	XP_011536675.1:p.Cys506Ser
NM_005379.4:c.1517G>C MANE Select	NP_005370.1:p.Cys506Ser
NM_001256041.2:c.1517G>C	NP_001242970.1:p.Cys506Ser