Canonical Allele Identifier: CA254324
Gene: MYO1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57029584A>G
GRCh37 chr12:g.57423368A>G
Revel Score:
ENST00000300119 (MANE Select) 0.291
ENST00000442789 0.291
ENST00000544473 0.291
gnomAD v3:
12:57029584 A / G
gnomAD v4:
chr12-57029584-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000008628
ClinVar Variation:
8151
dbSNP:
121909306
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57029584A>G , CM000674.2:g.57029584A>G GRCh38
NC_000012.11:g.57423368A>G , CM000674.1:g.57423368A>G GRCh37
NC_000012.10:g.55709635A>G NCBI36
NG_012104.1:g.25526T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300119.8:c.2728T>C MANE Select ENSP00000300119.3:p.Ser910Pro
ENST00000300119.7:c.2728T>C ENSP00000300119.3:p.Ser910Pro
ENST00000442789.6:c.2728T>C ENSP00000393392.2:p.Ser910Pro
ENST00000477864.1:n.291T>C
ENST00000554234.5:c.*173T>C ENSP00000451033.1:n.*173T>C
NM_001256041.1:c.2728T>C NP_001242970.1:p.Ser910Pro
NM_005379.3:c.2728T>C NP_005370.1:p.Ser910Pro
NM_005379.4:c.2728T>C MANE Select NP_005370.1:p.Ser910Pro
NM_001256041.2:c.2728T>C NP_001242970.1:p.Ser910Pro
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