Canonical Allele Identifier: CA403081908

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527528-C-T
• MyVariant Identifiers: chr19:g.7592414C>T (hg19) ; chr19:g.7527528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527528C>T , CM000681.2:g.7527528C>T	GRCh38
NC_000019.9:g.7592414C>T , CM000681.1:g.7592414C>T	GRCh37
NC_000019.8:g.7498414C>T	NCBI36
NG_015806.1:g.9919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.580C>T MANE Select	ENSP00000264079.5:p.Gln194Ter
ENST00000264079.10:c.580C>T	ENSP00000264079.5:p.Gln194Ter
ENST00000394321.9:n.660C>T
ENST00000598406.1:n.401C>T
ENST00000601003.1:c.572-336C>T	ENSP00000469074.1:n.572-336C>T
NM_020533.2:c.580C>T	NP_065394.1:p.Gln194Ter
NM_020533.3:c.580C>T MANE Select	NP_065394.1:p.Gln194Ter