Canonical Allele Identifier: CA403152828

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7525094-G-T
• MyVariant Identifiers: chr19:g.7589980G>T (hg19) ; chr19:g.7525094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525094G>T , CM000681.2:g.7525094G>T	GRCh38
NC_000019.9:g.7589980G>T , CM000681.1:g.7589980G>T	GRCh37
NC_000019.8:g.7495980G>T	NCBI36
NG_015806.1:g.7485G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.165G>T MANE Select	ENSP00000264079.5:p.Lys55Asn
ENST00000264079.10:c.165G>T	ENSP00000264079.5:p.Lys55Asn
ENST00000394321.9:n.245G>T
ENST00000596390.1:n.281G>T
ENST00000601003.1:c.165G>T	ENSP00000469074.1:p.Lys55Asn
NM_020533.2:c.165G>T	NP_065394.1:p.Lys55Asn
NM_020533.3:c.165G>T MANE Select	NP_065394.1:p.Lys55Asn