Canonical Allele Identifier: CA884200116

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2070713
• ClinVar RCV Id: RCV002971361 ; RCV002971362
• dbSNP Id: rs1481075430
• gnomAD v3: 19-7526758-C-T
• gnomAD v4: 19-7526758-C-T
• MyVariant Identifiers: chr19:g.7591644C>T (hg19) ; chr19:g.7526758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526758C>T , CM000681.2:g.7526758C>T	GRCh38
NC_000019.9:g.7591644C>T , CM000681.1:g.7591644C>T	GRCh37
NC_000019.8:g.7497644C>T	NCBI36
NG_015806.1:g.9149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.406-3C>T MANE Select	ENSP00000264079.5:n.406-3C>T
ENST00000264079.10:c.406-3C>T	ENSP00000264079.5:n.406-3C>T
ENST00000394321.9:n.486-3C>T
ENST00000596008.1:n.368-3C>T
ENST00000598406.1:n.227-3C>T
ENST00000601003.1:c.406-3C>T	ENSP00000469074.1:n.406-3C>T
NM_020533.2:c.406-3C>T	NP_065394.1:n.406-3C>T
NM_020533.3:c.406-3C>T MANE Select	NP_065394.1:n.406-3C>T