Canonical Allele Identifier: CA129010
Gene: MYO1E HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.59231737C>G
GRCh37 chr15:g.59523936C>G
Revel Score:
ENST00000288235 (MANE Select) 0.966
ClinVar RCV:
RCV000023110
ClinVar Variation:
30191
dbSNP:
387906807
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.59231737C>G , CM000677.2:g.59231737C>G GRCh38
NC_000015.9:g.59523936C>G , CM000677.1:g.59523936C>G GRCh37
NC_000015.8:g.57311228C>G NCBI36
NG_031999.1:g.146136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288235.9:c.475G>C MANE Select ENSP00000288235.4:p.Ala159Pro
ENST00000288235.8:c.475G>C ENSP00000288235.4:p.Ala159Pro
ENST00000558571.1:c.*48G>C ENSP00000453811.1:n.*48G>C
ENST00000558814.1:n.333G>C
NM_004998.3:c.475G>C NP_004989.2:p.Ala159Pro
NM_004998.4:c.475G>C MANE Select NP_004989.2:p.Ala159Pro
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