Canonical Allele Identifier: CA631462556

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1221547728
• gnomAD v2: 19-7589741-G-A
• gnomAD v3: 19-7524855-G-A
• gnomAD v4: 19-7524855-G-A
• MyVariant Identifiers: chr19:g.7589741G>A (hg19) ; chr19:g.7524855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524855G>A , CM000681.2:g.7524855G>A	GRCh38
NC_000019.9:g.7589741G>A , CM000681.1:g.7589741G>A	GRCh37
NC_000019.8:g.7495741G>A	NCBI36
NG_015806.1:g.7246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-106G>A MANE Select	ENSP00000264079.5:n.32-106G>A
ENST00000264079.10:c.32-106G>A	ENSP00000264079.5:n.32-106G>A
ENST00000394321.9:n.112-106G>A
ENST00000596390.1:n.148-106G>A
ENST00000601003.1:c.32-106G>A	ENSP00000469074.1:n.32-106G>A
NM_020533.2:c.32-106G>A	NP_065394.1:n.32-106G>A
XR_936293.1:n.100C>T
XR_936294.1:n.100C>T
XR_936295.1:n.100C>T
XR_936293.2:n.126C>T
XR_936294.2:n.126C>T
NM_020533.3:c.32-106G>A MANE Select	NP_065394.1:n.32-106G>A