Canonical Allele Identifier: CA403086582

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7593992G>T (hg19) ; chr19:g.7529106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529106G>T , CM000681.2:g.7529106G>T	GRCh38
NC_000019.9:g.7593992G>T , CM000681.1:g.7593992G>T	GRCh37
NC_000019.8:g.7499992G>T	NCBI36
NG_015806.1:g.11497G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1140G>T MANE Select	ENSP00000264079.5:p.Leu380Phe
ENST00000264079.10:c.1140G>T	ENSP00000264079.5:p.Leu380Phe
ENST00000394321.9:n.1455G>T
ENST00000594692.1:n.136G>T
ENST00000595860.5:n.323G>T
ENST00000599334.1:c.17G>T
NM_020533.2:c.1140G>T	NP_065394.1:p.Leu380Phe
NM_020533.3:c.1140G>T MANE Select	NP_065394.1:p.Leu380Phe