Canonical Allele Identifier: CA884200654

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1406781806
• MyVariant Identifiers: chr19:g.7592122C>T (hg19) ; chr19:g.7527236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527236C>T , CM000681.2:g.7527236C>T	GRCh38
NC_000019.9:g.7592122C>T , CM000681.1:g.7592122C>T	GRCh37
NC_000019.8:g.7498122C>T	NCBI36
NG_015806.1:g.9627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-284C>T MANE Select	ENSP00000264079.5:n.572-284C>T
ENST00000264079.10:c.572-284C>T	ENSP00000264079.5:n.572-284C>T
ENST00000394321.9:n.652-284C>T
ENST00000598406.1:n.393-284C>T
ENST00000601003.1:c.571+310C>T	ENSP00000469074.1:n.571+310C>T
NM_020533.2:c.572-284C>T	NP_065394.1:n.572-284C>T
NM_020533.3:c.572-284C>T MANE Select	NP_065394.1:n.572-284C>T