Canonical Allele Identifier: CA304853679

Gene: MCOLN1

Linked Data

• dbSNP Id: rs949391061
• MyVariant Identifiers: chr19:g.7592754G>T (hg19) ; chr19:g.7527868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527868G>T , CM000681.2:g.7527868G>T	GRCh38
NC_000019.9:g.7592754G>T , CM000681.1:g.7592754G>T	GRCh37
NC_000019.8:g.7498754G>T	NCBI36
NG_015806.1:g.10259G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.685G>T MANE Select	ENSP00000264079.5:p.Val229Phe
ENST00000264079.10:c.685G>T	ENSP00000264079.5:p.Val229Phe
ENST00000394321.9:n.1000G>T
ENST00000601003.1:c.576G>T	ENSP00000469074.1:p.Trp192Cys
NM_020533.2:c.685G>T	NP_065394.1:p.Val229Phe
NM_020533.3:c.685G>T MANE Select	NP_065394.1:p.Val229Phe