Canonical Allele Identifier: CA304857363

Gene: MCOLN1

Linked Data

• dbSNP Id: rs945253770
• MyVariant Identifiers: chr19:g.7598704C>T (hg19) ; chr19:g.7533818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533818C>T , CM000681.2:g.7533818C>T	GRCh38
NC_000019.9:g.7598704C>T , CM000681.1:g.7598704C>T	GRCh37
NC_000019.8:g.7504704C>T	NCBI36
NG_013374.1:g.4667C>T
NG_015806.1:g.16209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*23C>T MANE Select	ENSP00000264079.5:n.*23C>T
ENST00000264079.10:c.*23C>T	ENSP00000264079.5:n.*23C>T
ENST00000394321.9:n.2081C>T
ENST00000599334.1:c.494C>T
ENST00000601870.1:c.119C>T
ENST00000602227.1:n.320C>T
NM_020533.2:c.*23C>T	NP_065394.1:n.*23C>T
NM_020533.3:c.*23C>T MANE Select	NP_065394.1:n.*23C>T