Canonical Allele Identifier: CA6639902

Gene: MYO1A

Linked Data

• ClinVar Variation Id: 226411
• ClinVar RCV Id: RCV000211623 ; RCV003390958 ; RCV003967568
• dbSNP Id: rs148808080
• ExAC: 12:57431366 C / T
• gnomAD v2: 12-57431366-C-T
• gnomAD v3: 12-57037582-C-T
• gnomAD v4: 12-57037582-C-T
• MyVariant Identifiers: chr12:g.57431366C>T (hg19) ; chr12:g.57037582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57037582C>T , CM000674.2:g.57037582C>T	GRCh38
NC_000012.11:g.57431366C>T , CM000674.1:g.57431366C>T	GRCh37
NC_000012.10:g.55717633C>T	NCBI36
NG_012104.1:g.17528G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.2021G>A MANE Select	ENSP00000300119.3:p.Gly674Asp
ENST00000300119.7:c.2021G>A	ENSP00000300119.3:p.Gly674Asp
ENST00000442789.6:c.2021G>A	ENSP00000393392.2:p.Gly674Asp
ENST00000554234.5:c.1535G>A	ENSP00000451033.1:p.Gly512Asp
NM_001256041.1:c.2021G>A	NP_001242970.1:p.Gly674Asp
NM_005379.3:c.2021G>A	NP_005370.1:p.Gly674Asp
XM_011538373.1:c.2021G>A	XP_011536675.1:p.Gly674Asp
XM_011538373.2:c.2021G>A	XP_011536675.1:p.Gly674Asp
NM_005379.4:c.2021G>A MANE Select	NP_005370.1:p.Gly674Asp
NM_001256041.2:c.2021G>A	NP_001242970.1:p.Gly674Asp