Canonical Allele Identifier: CA136016
Gene: MYO1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57043335C>T
GRCh37 chr12:g.57437119C>T
Revel Score:
ENST00000300119 (MANE Select) 0.488
ENST00000442789 0.488
ENST00000544473 0.488
ENST00000492945 0.488
gnomAD v2:
12:57437119 C / T
gnomAD v3:
12:57043335 C / T
gnomAD v4:
chr12-57043335-C-T
Joint Max Group AF 0.00957859 (NFE)
Genomes Max Group AF 0.00881923 (NFE)
Exomes Max Group AF 0.00959193 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57043335C>T , CM000674.2:g.57043335C>T GRCh38
NC_000012.11:g.57437119C>T , CM000674.1:g.57437119C>T GRCh37
NC_000012.10:g.55723386C>T NCBI36
NG_012104.1:g.11775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300119.8:c.916G>A MANE Select ENSP00000300119.3:p.Val306Met
ENST00000300119.7:c.916G>A ENSP00000300119.3:p.Val306Met
ENST00000442789.6:c.916G>A ENSP00000393392.2:p.Val306Met
ENST00000492945.5:c.4G>A ENSP00000452229.1:p.Val2Met
ENST00000554234.5:c.430G>A ENSP00000451033.1:p.Val144Met
NM_001256041.1:c.916G>A NP_001242970.1:p.Val306Met
NM_005379.3:c.916G>A NP_005370.1:p.Val306Met
XM_011538373.1:c.916G>A XP_011536675.1:p.Val306Met
XM_011538373.2:c.916G>A XP_011536675.1:p.Val306Met
NM_005379.4:c.916G>A MANE Select NP_005370.1:p.Val306Met
NM_001256041.2:c.916G>A NP_001242970.1:p.Val306Met
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