Canonical Allele Identifier: CA367394990
Gene: NPC1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44539223T>C , CM000669.2:g.44539223T>C GRCh38
NC_000007.13:g.44578822T>C , CM000669.1:g.44578822T>C GRCh37
NC_000007.12:g.44545347T>C NCBI36
NG_013088.1:g.7093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.1174A>G MANE Select ENSP00000370552.3:p.Ser392Gly
ENST00000289547.8:c.1174A>G ENSP00000289547.4:p.Ser392Gly
ENST00000381160.7:c.1174A>G ENSP00000370552.3:p.Ser392Gly
ENST00000423141.1:c.1174A>G ENSP00000404670.1:p.Ser392Gly
ENST00000546276.5:c.1174A>G ENSP00000438033.1:p.Ser392Gly
NM_001101648.1:c.1174A>G NP_001095118.1:p.Ser392Gly
NM_001300967.1:c.1174A>G NP_001287896.1:p.Ser392Gly
NM_013389.2:c.1174A>G NP_037521.2:p.Ser392Gly
XM_011515326.1:c.1174A>G XP_011513628.1:p.Ser392Gly
XM_011515327.1:c.1174A>G XP_011513629.1:p.Ser392Gly
XM_011515326.3:c.1174A>G XP_011513628.1:p.Ser392Gly
XM_011515328.2:c.-194A>G XP_011513630.1:n.-194A>G
XR_002956423.1:n.1566A>G
NM_001101648.2:c.1174A>G MANE Select NP_001095118.1:p.Ser392Gly
NM_001300967.2:c.1174A>G NP_001287896.1:p.Ser392Gly
NM_013389.3:c.1174A>G NP_037521.2:p.Ser392Gly