Canonical Allele Identifier: CA403083705

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592756C>T (hg19) ; chr19:g.7527870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527870C>T , CM000681.2:g.7527870C>T	GRCh38
NC_000019.9:g.7592756C>T , CM000681.1:g.7592756C>T	GRCh37
NC_000019.8:g.7498756C>T	NCBI36
NG_015806.1:g.10261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.687C>T MANE Select	ENSP00000264079.5:p.Val229=
ENST00000264079.10:c.687C>T	ENSP00000264079.5:p.Val229=
ENST00000394321.9:n.1002C>T
ENST00000601003.1:c.578C>T	ENSP00000469074.1:p.Ser193Leu
NM_020533.2:c.687C>T	NP_065394.1:p.Val229=
NM_020533.3:c.687C>T MANE Select	NP_065394.1:p.Val229=