Canonical Allele Identifier: CA505231727

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529605-C-T
• MyVariant Identifiers: chr19:g.7594491C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529605C>T , CM000681.2:g.7529605C>T	GRCh38
NC_000019.9:g.7594491C>T , CM000681.1:g.7594491C>T	GRCh37
NC_000019.8:g.7500491C>T	NCBI36
NG_013374.1:g.454C>T
NG_015806.1:g.11996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1252C>T MANE Select	ENSP00000264079.5:p.Leu418=
ENST00000264079.10:c.1252C>T	ENSP00000264079.5:p.Leu418=
ENST00000394321.9:n.1567C>T
ENST00000594692.1:n.248C>T
ENST00000595860.5:n.435C>T
ENST00000599334.1:c.129C>T
NM_020533.2:c.1252C>T	NP_065394.1:p.Leu418=
NM_020533.3:c.1252C>T MANE Select	NP_065394.1:p.Leu418=