Canonical Allele Identifier: CA884199994

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1360268521
• gnomAD v3: 19-7526659-A-G
• gnomAD v4: 19-7526659-A-G
• MyVariant Identifiers: chr19:g.7591545A>G (hg19) ; chr19:g.7526659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526659A>G , CM000681.2:g.7526659A>G	GRCh38
NC_000019.9:g.7591545A>G , CM000681.1:g.7591545A>G	GRCh37
NC_000019.8:g.7497545A>G	NCBI36
NG_015806.1:g.9050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+53A>G MANE Select	ENSP00000264079.5:n.405+53A>G
ENST00000264079.10:c.405+53A>G	ENSP00000264079.5:n.405+53A>G
ENST00000394321.9:n.485+53A>G
ENST00000596008.1:n.367+53A>G
ENST00000598406.1:n.226+53A>G
ENST00000601003.1:c.405+53A>G	ENSP00000469074.1:n.405+53A>G
NM_020533.2:c.405+53A>G	NP_065394.1:n.405+53A>G
NM_020533.3:c.405+53A>G MANE Select	NP_065394.1:n.405+53A>G