Canonical Allele Identifier: CA403152339

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7589853A>T (hg19) ; chr19:g.7524967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524967A>T , CM000681.2:g.7524967A>T	GRCh38
NC_000019.9:g.7589853A>T , CM000681.1:g.7589853A>T	GRCh37
NC_000019.8:g.7495853A>T	NCBI36
NG_015806.1:g.7358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.38A>T MANE Select	ENSP00000264079.5:p.Glu13Val
ENST00000264079.10:c.38A>T	ENSP00000264079.5:p.Glu13Val
ENST00000394321.9:n.118A>T
ENST00000596390.1:n.154A>T
ENST00000601003.1:c.38A>T	ENSP00000469074.1:p.Glu13Val
NM_020533.2:c.38A>T	NP_065394.1:p.Glu13Val
XR_936293.2:n.14T>A
XR_936294.2:n.14T>A
NM_020533.3:c.38A>T MANE Select	NP_065394.1:p.Glu13Val