Canonical Allele Identifier: CA367395100
Gene: NPC1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44539249C>T , CM000669.2:g.44539249C>T GRCh38
NC_000007.13:g.44578848C>T , CM000669.1:g.44578848C>T GRCh37
NC_000007.12:g.44545373C>T NCBI36
NG_013088.1:g.7067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.1148G>A MANE Select ENSP00000370552.3:p.Trp383Ter
ENST00000289547.8:c.1148G>A ENSP00000289547.4:p.Trp383Ter
ENST00000381160.7:c.1148G>A ENSP00000370552.3:p.Trp383Ter
ENST00000423141.1:c.1148G>A ENSP00000404670.1:p.Trp383Ter
ENST00000546276.5:c.1148G>A ENSP00000438033.1:p.Trp383Ter
NM_001101648.1:c.1148G>A NP_001095118.1:p.Trp383Ter
NM_001300967.1:c.1148G>A NP_001287896.1:p.Trp383Ter
NM_013389.2:c.1148G>A NP_037521.2:p.Trp383Ter
XM_011515326.1:c.1148G>A XP_011513628.1:p.Trp383Ter
XM_011515327.1:c.1148G>A XP_011513629.1:p.Trp383Ter
XM_011515326.3:c.1148G>A XP_011513628.1:p.Trp383Ter
XM_011515328.2:c.-220G>A XP_011513630.1:n.-220G>A
XR_002956423.1:n.1540G>A
NM_001101648.2:c.1148G>A MANE Select NP_001095118.1:p.Trp383Ter
NM_001300967.2:c.1148G>A NP_001287896.1:p.Trp383Ter
NM_013389.3:c.1148G>A NP_037521.2:p.Trp383Ter