Canonical Allele Identifier: CA16041994
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370494
ClinVar RCV Id: RCV000412421
dbSNP Id: rs1057516531

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530373C>T , CM000681.2:g.7530373C>T GRCh38
NC_000019.9:g.7595259C>T , CM000681.1:g.7595259C>T GRCh37
NC_000019.8:g.7501259C>T NCBI36
NG_013374.1:g.1222C>T
NG_015806.1:g.12764C>T

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1447C>T VV NP_065394.1:p.Gln483Ter
ENST00000264079.10:c.1447C>T ENSP00000264079.5:p.Gln483Ter
ENST00000394321.9:n.1762C>T
ENST00000594692.1:n.443C>T
ENST00000595860.5:n.630C>T
ENST00000599334.1:n.237-62C>T