Canonical Allele Identifier: CA505232278

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7590035C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525149C>T , CM000681.2:g.7525149C>T	GRCh38
NC_000019.9:g.7590035C>T , CM000681.1:g.7590035C>T	GRCh37
NC_000019.8:g.7496035C>T	NCBI36
NG_015806.1:g.7540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.220C>T MANE Select	ENSP00000264079.5:p.Leu74=
ENST00000264079.10:c.220C>T	ENSP00000264079.5:p.Leu74=
ENST00000394321.9:n.300C>T
ENST00000596390.1:n.336C>T
ENST00000601003.1:c.220C>T	ENSP00000469074.1:p.Leu74=
NM_020533.2:c.220C>T	NP_065394.1:p.Leu74=
NM_020533.3:c.220C>T MANE Select	NP_065394.1:p.Leu74=