Canonical Allele Identifier: CA1703813772
Gene: NPC1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541263A= , CM000669.2:g.44541263A= GRCh38
NC_000007.13:g.44580862A= , CM000669.1:g.44580862A= GRCh37
NC_000007.12:g.44547387A= NCBI36
NG_013088.1:g.5053T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.-4T= MANE Select ENSP00000370552.3:n.-4T=
ENST00000289547.8:c.-4T= ENSP00000289547.4:n.-4T=
ENST00000381160.7:c.-4T= ENSP00000370552.3:n.-4T=
ENST00000423141.1:c.-4T= ENSP00000404670.1:n.-4T=
ENST00000546276.5:c.-4T= ENSP00000438033.1:n.-4T=
NM_001101648.1:c.-4T= NP_001095118.1:n.-4T=
NM_001300967.1:c.-4T= NP_001287896.1:n.-4T=
NM_013389.2:c.-4T= NP_037521.2:n.-4T=
XM_011515326.1:c.-4T= XP_011513628.1:n.-4T=
XM_011515327.1:c.-4T= XP_011513629.1:n.-4T=
XM_011515326.3:c.-4T= XP_011513628.1:n.-4T=
XR_002956423.1:n.389T=
NM_001101648.2:c.-4T= MANE Select NP_001095118.1:n.-4T=
NM_001300967.2:c.-4T= NP_001287896.1:n.-4T=
NM_013389.3:c.-4T= NP_037521.2:n.-4T=