Canonical Allele Identifier: CA2320962944

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1919135
• ClinVar RCV Id: RCV002603800
• dbSNP Id: rs376284815

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528716C>G , CM000681.2:g.7528716C>G	GRCh38
NC_000019.9:g.7593602C>G , CM000681.1:g.7593602C>G	GRCh37
NC_000019.8:g.7499602C>G	NCBI36
NG_015806.1:g.11107C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.984+13C>G MANE Select	ENSP00000264079.5:n.984+13C>G
ENST00000264079.10:c.984+13C>G	ENSP00000264079.5:n.984+13C>G
ENST00000394321.9:n.1299+13C>G
ENST00000595860.5:n.63C>G
NM_020533.2:c.984+13C>G	NP_065394.1:n.984+13C>G
NM_020533.3:c.984+13C>G MANE Select	NP_065394.1:n.984+13C>G