Canonical Allele Identifier: CA4242248

Gene: NPC1L1

Linked Data

• ClinVar Variation Id: 3038217
• ClinVar RCV Id: RCV003919704
• dbSNP Id: rs139659653
• ExAC: 7:44578747 G / A
• gnomAD v2: 7-44578747-G-A
• gnomAD v3: 7-44539148-G-A
• gnomAD v4: 7-44539148-G-A
• MyVariant Identifiers: chr7:g.44578747G>A (hg19) ; chr7:g.44539148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539148G>A , CM000669.2:g.44539148G>A	GRCh38
NC_000007.13:g.44578747G>A , CM000669.1:g.44578747G>A	GRCh37
NC_000007.12:g.44545272G>A	NCBI36
NG_013088.1:g.7168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1249C>T MANE Select	ENSP00000370552.3:p.Arg417Trp
ENST00000289547.8:c.1249C>T	ENSP00000289547.4:p.Arg417Trp
ENST00000381160.7:c.1249C>T	ENSP00000370552.3:p.Arg417Trp
ENST00000423141.1:c.1249C>T	ENSP00000404670.1:p.Arg417Trp
ENST00000546276.5:c.1249C>T	ENSP00000438033.1:p.Arg417Trp
NM_001101648.1:c.1249C>T	NP_001095118.1:p.Arg417Trp
NM_001300967.1:c.1249C>T	NP_001287896.1:p.Arg417Trp
NM_013389.2:c.1249C>T	NP_037521.2:p.Arg417Trp
XM_011515326.1:c.1249C>T	XP_011513628.1:p.Arg417Trp
XM_011515327.1:c.1249C>T	XP_011513629.1:p.Arg417Trp
XM_011515328.1:c.-119C>T	XP_011513630.1:n.-119C>T
XM_011515326.3:c.1249C>T	XP_011513628.1:p.Arg417Trp
XM_011515328.2:c.-119C>T	XP_011513630.1:n.-119C>T
XR_002956423.1:n.1641C>T
NM_001101648.2:c.1249C>T MANE Select	NP_001095118.1:p.Arg417Trp
NM_001300967.2:c.1249C>T	NP_001287896.1:p.Arg417Trp
NM_013389.3:c.1249C>T	NP_037521.2:p.Arg417Trp