Canonical Allele Identifier: CA115648
Gene: NPC1L1 HGNC NCBI
ClinVar RCV:
RCV000002739
RCV000455151
ClinVar Variation:
2621
dbSNP:
52815063
gnomAD v2:
7:44555699 A / T
gnomAD v3:
7:44516100 A / T
gnomAD v4:
chr7-44516100-A-T
Joint Max Group AF 0.01366143 (NFE)
Genomes Max Group AF 0.01118439 (NFE)
Exomes Max Group AF 0.01377632 (NFE)
MyVariant.info:
GRCh38 chr7:g.44516100A>T
GRCh37 chr7:g.44555699A>T
Revel Score:
ENST00000289547 0.274
ENST00000381160 (MANE Select) 0.274
ENST00000546276 0.274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44516100A>T , CM000669.2:g.44516100A>T GRCh38
NC_000007.13:g.44555699A>T , CM000669.1:g.44555699A>T GRCh37
NC_000007.12:g.44522224A>T NCBI36
NG_013088.1:g.30216T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.3617T>A MANE Select ENSP00000370552.3:p.Ile1206Asn
ENST00000289547.8:c.3698T>A ENSP00000289547.4:p.Ile1233Asn
ENST00000381160.7:c.3617T>A ENSP00000370552.3:p.Ile1206Asn
ENST00000546276.5:c.3479T>A ENSP00000438033.1:p.Ile1160Asn
NM_001101648.1:c.3617T>A NP_001095118.1:p.Ile1206Asn
NM_013389.2:c.3698T>A NP_037521.2:p.Ile1233Asn
XM_011515326.1:c.3422T>A XP_011513628.1:p.Ile1141Asn
XM_011515328.1:c.1976T>A XP_011513630.1:p.Ile659Asn
XM_011515326.3:c.3422T>A XP_011513628.1:p.Ile1141Asn
XM_011515328.2:c.1976T>A XP_011513630.1:p.Ile659Asn
NM_001101648.2:c.3617T>A MANE Select NP_001095118.1:p.Ile1206Asn
NM_013389.3:c.3698T>A NP_037521.2:p.Ile1233Asn
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