Canonical Allele Identifier: CA182367
Gene: MYO1A HGNC NCBI

Linked Data

ClinVar Variation Id: 178456
ClinVar RCV Id: RCV000155204
dbSNP Id: rs151045364
ExAC: 12:57441141 C / T
gnomAD v2: 12-57441141-C-T
gnomAD v3: 12-57047357-C-T
gnomAD v4: 12-57047357-C-T
MyVariant Identifiers: chr12:g.57441141C>T (hg19) chr12:g.57047357C>T (hg38)
PubMed: PMID:24616153
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57047357C>T , CM000674.2:g.57047357C>T GRCh38
NC_000012.11:g.57441141C>T , CM000674.1:g.57441141C>T GRCh37
NC_000012.10:g.55727408C>T NCBI36
NG_012104.1:g.7753G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300119.8:c.376G>A MANE Select ENSP00000300119.3:p.Glu126Lys
ENST00000300119.7:c.376G>A ENSP00000300119.3:p.Glu126Lys
ENST00000442789.6:c.376G>A ENSP00000393392.2:p.Glu126Lys
ENST00000492945.5:c.-21+2530G>A ENSP00000452229.1:n.-21+2530G>A
ENST00000554234.5:c.-64G>A ENSP00000451033.1:n.-64G>A
NM_001256041.1:c.376G>A NP_001242970.1:p.Glu126Lys
NM_005379.3:c.376G>A NP_005370.1:p.Glu126Lys
XM_011538373.1:c.376G>A XP_011536675.1:p.Glu126Lys
XM_011538373.2:c.376G>A XP_011536675.1:p.Glu126Lys
NM_005379.4:c.376G>A MANE Select NP_005370.1:p.Glu126Lys
NM_001256041.2:c.376G>A NP_001242970.1:p.Glu126Lys
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