Canonical Allele Identifier: CA403087292

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594489C>A (hg19) ; chr19:g.7529603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529603C>A , CM000681.2:g.7529603C>A	GRCh38
NC_000019.9:g.7594489C>A , CM000681.1:g.7594489C>A	GRCh37
NC_000019.8:g.7500489C>A	NCBI36
NG_013374.1:g.452C>A
NG_015806.1:g.11994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1250C>A MANE Select	ENSP00000264079.5:p.Thr417Lys
ENST00000264079.10:c.1250C>A	ENSP00000264079.5:p.Thr417Lys
ENST00000394321.9:n.1565C>A
ENST00000594692.1:n.246C>A
ENST00000595860.5:n.433C>A
ENST00000599334.1:c.127C>A
NM_020533.2:c.1250C>A	NP_065394.1:p.Thr417Lys
NM_020533.3:c.1250C>A MANE Select	NP_065394.1:p.Thr417Lys