Canonical Allele Identifier: CA403087517

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594518C>A (hg19) ; chr19:g.7529632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529632C>A , CM000681.2:g.7529632C>A	GRCh38
NC_000019.9:g.7594518C>A , CM000681.1:g.7594518C>A	GRCh37
NC_000019.8:g.7500518C>A	NCBI36
NG_013374.1:g.481C>A
NG_015806.1:g.12023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1279C>A MANE Select	ENSP00000264079.5:p.Arg427Ser
ENST00000264079.10:c.1279C>A	ENSP00000264079.5:p.Arg427Ser
ENST00000394321.9:n.1594C>A
ENST00000594692.1:n.275C>A
ENST00000595860.5:n.462C>A
ENST00000599334.1:c.156C>A
NM_020533.2:c.1279C>A	NP_065394.1:p.Arg427Ser
NM_020533.3:c.1279C>A MANE Select	NP_065394.1:p.Arg427Ser