Canonical Allele Identifier: CA367395163
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1802002449
gnomAD v4: 7-44539270-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44539270G>A , CM000669.2:g.44539270G>A GRCh38
NC_000007.13:g.44578869G>A , CM000669.1:g.44578869G>A GRCh37
NC_000007.12:g.44545394G>A NCBI36
NG_013088.1:g.7046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.1127C>T MANE Select ENSP00000370552.3:p.Thr376Ile
ENST00000289547.8:c.1127C>T ENSP00000289547.4:p.Thr376Ile
ENST00000381160.7:c.1127C>T ENSP00000370552.3:p.Thr376Ile
ENST00000423141.1:c.1127C>T ENSP00000404670.1:p.Thr376Ile
ENST00000546276.5:c.1127C>T ENSP00000438033.1:p.Thr376Ile
NM_001101648.1:c.1127C>T NP_001095118.1:p.Thr376Ile
NM_001300967.1:c.1127C>T NP_001287896.1:p.Thr376Ile
NM_013389.2:c.1127C>T NP_037521.2:p.Thr376Ile
XM_011515326.1:c.1127C>T XP_011513628.1:p.Thr376Ile
XM_011515327.1:c.1127C>T XP_011513629.1:p.Thr376Ile
XM_011515326.3:c.1127C>T XP_011513628.1:p.Thr376Ile
XM_011515328.2:c.-241C>T XP_011513630.1:n.-241C>T
XR_002956423.1:n.1519C>T
NM_001101648.2:c.1127C>T MANE Select NP_001095118.1:p.Thr376Ile
NM_001300967.2:c.1127C>T NP_001287896.1:p.Thr376Ile
NM_013389.3:c.1127C>T NP_037521.2:p.Thr376Ile