Canonical Allele Identifier: CA403083754

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592760G>T (hg19) ; chr19:g.7527874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527874G>T , CM000681.2:g.7527874G>T	GRCh38
NC_000019.9:g.7592760G>T , CM000681.1:g.7592760G>T	GRCh37
NC_000019.8:g.7498760G>T	NCBI36
NG_015806.1:g.10265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.691G>T MANE Select	ENSP00000264079.5:p.Val231Phe
ENST00000264079.10:c.691G>T	ENSP00000264079.5:p.Val231Phe
ENST00000394321.9:n.1006G>T
ENST00000601003.1:c.582G>T	ENSP00000469074.1:p.Met194Ile
NM_020533.2:c.691G>T	NP_065394.1:p.Val231Phe
NM_020533.3:c.691G>T MANE Select	NP_065394.1:p.Val231Phe