Canonical Allele Identifier: CA9139230

Gene: MCOLN1

Linked Data

• dbSNP Id: rs756087583
• ExAC: 19:7598550 C / G
• gnomAD v2: 19-7598550-C-G
• gnomAD v4: 19-7533664-C-G
• MyVariant Identifiers: chr19:g.7598550C>G (hg19) ; chr19:g.7533664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533664C>G , CM000681.2:g.7533664C>G	GRCh38
NC_000019.9:g.7598550C>G , CM000681.1:g.7598550C>G	GRCh37
NC_000019.8:g.7504550C>G	NCBI36
NG_013374.1:g.4513C>G
NG_015806.1:g.16055C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+11C>G MANE Select	ENSP00000264079.5:n.1706+11C>G
ENST00000264079.10:c.1706+11C>G	ENSP00000264079.5:n.1706+11C>G
ENST00000394321.9:n.2021+11C>G
ENST00000599334.1:c.434+11C>G
ENST00000601870.1:c.59+11C>G
ENST00000602227.1:n.260+11C>G
NM_020533.2:c.1706+11C>G	NP_065394.1:n.1706+11C>G
NM_020533.3:c.1706+11C>G MANE Select	NP_065394.1:n.1706+11C>G