Canonical Allele Identifier: CA403152362

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7589865C>G (hg19) ; chr19:g.7524979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524979C>G , CM000681.2:g.7524979C>G	GRCh38
NC_000019.9:g.7589865C>G , CM000681.1:g.7589865C>G	GRCh37
NC_000019.8:g.7495865C>G	NCBI36
NG_015806.1:g.7370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.50C>G MANE Select	ENSP00000264079.5:p.Thr17Ser
ENST00000264079.10:c.50C>G	ENSP00000264079.5:p.Thr17Ser
ENST00000394321.9:n.130C>G
ENST00000596390.1:n.166C>G
ENST00000601003.1:c.50C>G	ENSP00000469074.1:p.Thr17Ser
NM_020533.2:c.50C>G	NP_065394.1:p.Thr17Ser
XR_936293.2:n.2G>C
XR_936294.2:n.2G>C
NM_020533.3:c.50C>G MANE Select	NP_065394.1:p.Thr17Ser