Canonical Allele Identifier: CA403086994

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594065C>G (hg19) ; chr19:g.7529179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529179C>G , CM000681.2:g.7529179C>G	GRCh38
NC_000019.9:g.7594065C>G , CM000681.1:g.7594065C>G	GRCh37
NC_000019.8:g.7500065C>G	NCBI36
NG_013374.1:g.28C>G
NG_015806.1:g.11570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1213C>G MANE Select	ENSP00000264079.5:p.Leu405Val
ENST00000264079.10:c.1213C>G	ENSP00000264079.5:p.Leu405Val
ENST00000394321.9:n.1528C>G
ENST00000594692.1:n.209C>G
ENST00000595860.5:n.396C>G
ENST00000599334.1:c.90C>G
NM_020533.2:c.1213C>G	NP_065394.1:p.Leu405Val
NM_020533.3:c.1213C>G MANE Select	NP_065394.1:p.Leu405Val