Canonical Allele Identifier: CA403092104

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598670C>A (hg19) ; chr19:g.7533784C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533784C>A , CM000681.2:g.7533784C>A	GRCh38
NC_000019.9:g.7598670C>A , CM000681.1:g.7598670C>A	GRCh37
NC_000019.8:g.7504670C>A	NCBI36
NG_013374.1:g.4633C>A
NG_015806.1:g.16175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1732C>A MANE Select	ENSP00000264079.5:p.Leu578Met
ENST00000264079.10:c.1732C>A	ENSP00000264079.5:p.Leu578Met
ENST00000394321.9:n.2047C>A
ENST00000599334.1:c.460C>A
ENST00000601870.1:c.85C>A
ENST00000602227.1:n.286C>A
NM_020533.2:c.1732C>A	NP_065394.1:p.Leu578Met
NM_020533.3:c.1732C>A MANE Select	NP_065394.1:p.Leu578Met