Canonical Allele Identifier: CA403091678

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598497G>T (hg19) ; chr19:g.7533611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533611G>T , CM000681.2:g.7533611G>T	GRCh38
NC_000019.9:g.7598497G>T , CM000681.1:g.7598497G>T	GRCh37
NC_000019.8:g.7504497G>T	NCBI36
NG_013374.1:g.4460G>T
NG_015806.1:g.16002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1664G>T MANE Select	ENSP00000264079.5:p.Arg555Leu
ENST00000264079.10:c.1664G>T	ENSP00000264079.5:p.Arg555Leu
ENST00000394321.9:n.1979G>T
ENST00000599334.1:c.392G>T
ENST00000601870.1:c.17G>T
ENST00000602227.1:n.218G>T
NM_020533.2:c.1664G>T	NP_065394.1:p.Arg555Leu
NM_020533.3:c.1664G>T MANE Select	NP_065394.1:p.Arg555Leu