Canonical Allele Identifier: CA14082414
Gene: MYO1E HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.59136459C>G
GRCh37 chr15:g.59428658C>G
gnomAD v2:
15:59428658 C / G
gnomAD v3:
15:59136459 C / G
gnomAD v4:
chr15-59136459-C-G
Joint Max Group AF 0.43955509 (AFR)
Genomes Max Group AF 0.44062259 (AFR)
Exomes Max Group AF 0.45250899 (AMR)
dbSNP:
4218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.59136459C>G , CM000677.2:g.59136459C>G GRCh38
NC_000015.9:g.59428658C>G , CM000677.1:g.59428658C>G GRCh37
NC_000015.8:g.57215950C>G NCBI36
NG_031999.1:g.241414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288235.9:c.*921G>C MANE Select ENSP00000288235.4:n.*921G>C
ENST00000288235.8:c.*921G>C ENSP00000288235.4:n.*921G>C
ENST00000559412.1:c.448G>C ENSP00000453936.1:n.448G>C
NM_004998.3:c.*921G>C NP_004989.2:n.*921G>C
XM_024449932.1:c.*921G>C XP_024305700.1:n.*921G>C
NM_004998.4:c.*921G>C MANE Select NP_004989.2:n.*921G>C
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