Canonical Allele Identifier: CA4242238

Gene: NPC1L1

Linked Data

• dbSNP Id: rs114375162
• ExAC: 7:44578696 C / T
• gnomAD v2: 7-44578696-C-T
• gnomAD v3: 7-44539097-C-T
• gnomAD v4: 7-44539097-C-T
• MyVariant Identifiers: chr7:g.44578696C>T (hg19) ; chr7:g.44539097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539097C>T , CM000669.2:g.44539097C>T	GRCh38
NC_000007.13:g.44578696C>T , CM000669.1:g.44578696C>T	GRCh37
NC_000007.12:g.44545221C>T	NCBI36
NG_013088.1:g.7219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1300G>A MANE Select	ENSP00000370552.3:p.Gly434Arg
ENST00000289547.8:c.1300G>A	ENSP00000289547.4:p.Gly434Arg
ENST00000381160.7:c.1300G>A	ENSP00000370552.3:p.Gly434Arg
ENST00000423141.1:c.1300G>A	ENSP00000404670.1:p.Gly434Arg
ENST00000546276.5:c.1300G>A	ENSP00000438033.1:p.Gly434Arg
NM_001101648.1:c.1300G>A	NP_001095118.1:p.Gly434Arg
NM_001300967.1:c.1300G>A	NP_001287896.1:p.Gly434Arg
NM_013389.2:c.1300G>A	NP_037521.2:p.Gly434Arg
XM_011515326.1:c.1300G>A	XP_011513628.1:p.Gly434Arg
XM_011515327.1:c.1300G>A	XP_011513629.1:p.Gly434Arg
XM_011515328.1:c.-68G>A	XP_011513630.1:n.-68G>A
XM_011515326.3:c.1300G>A	XP_011513628.1:p.Gly434Arg
XM_011515328.2:c.-68G>A	XP_011513630.1:n.-68G>A
XR_002956423.1:n.1692G>A
NM_001101648.2:c.1300G>A MANE Select	NP_001095118.1:p.Gly434Arg
NM_001300967.2:c.1300G>A	NP_001287896.1:p.Gly434Arg
NM_013389.3:c.1300G>A	NP_037521.2:p.Gly434Arg