Canonical Allele Identifier: CA505232285

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7590040G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525154G>C , CM000681.2:g.7525154G>C	GRCh38
NC_000019.9:g.7590040G>C , CM000681.1:g.7590040G>C	GRCh37
NC_000019.8:g.7496040G>C	NCBI36
NG_015806.1:g.7545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.225G>C MANE Select	ENSP00000264079.5:p.Val75=
ENST00000264079.10:c.225G>C	ENSP00000264079.5:p.Val75=
ENST00000394321.9:n.305G>C
ENST00000596390.1:n.341G>C
ENST00000601003.1:c.225G>C	ENSP00000469074.1:p.Val75=
NM_020533.2:c.225G>C	NP_065394.1:p.Val75=
NM_020533.3:c.225G>C MANE Select	NP_065394.1:p.Val75=