Canonical Allele Identifier: CA403081521

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7591747A>T (hg19) ; chr19:g.7526861A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526861A>T , CM000681.2:g.7526861A>T	GRCh38
NC_000019.9:g.7591747A>T , CM000681.1:g.7591747A>T	GRCh37
NC_000019.8:g.7497747A>T	NCBI36
NG_015806.1:g.9252A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.506A>T MANE Select	ENSP00000264079.5:p.Tyr169Phe
ENST00000264079.10:c.506A>T	ENSP00000264079.5:p.Tyr169Phe
ENST00000394321.9:n.586A>T
ENST00000596008.1:n.468A>T
ENST00000598406.1:n.327A>T
ENST00000601003.1:c.506A>T	ENSP00000469074.1:p.Tyr169Phe
NM_020533.2:c.506A>T	NP_065394.1:p.Tyr169Phe
NM_020533.3:c.506A>T MANE Select	NP_065394.1:p.Tyr169Phe