Canonical Allele Identifier: CA505232341

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530318-G-T
• MyVariant Identifiers: chr19:g.7595204G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530318G>T , CM000681.2:g.7530318G>T	GRCh38
NC_000019.9:g.7595204G>T , CM000681.1:g.7595204G>T	GRCh37
NC_000019.8:g.7501204G>T	NCBI36
NG_013374.1:g.1167G>T
NG_015806.1:g.12709G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1392G>T MANE Select	ENSP00000264079.5:p.Leu464=
ENST00000264079.10:c.1392G>T	ENSP00000264079.5:p.Leu464=
ENST00000394321.9:n.1707G>T
ENST00000594692.1:n.388G>T
ENST00000595860.5:n.575G>T
ENST00000599334.1:c.237-117G>T
NM_020533.2:c.1392G>T	NP_065394.1:p.Leu464=
NM_020533.3:c.1392G>T MANE Select	NP_065394.1:p.Leu464=