Canonical Allele Identifier: CA2682630866
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541322-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541322A>T , CM000669.2:g.44541322A>T GRCh38
NC_000007.13:g.44580921A>T , CM000669.1:g.44580921A>T GRCh37
NC_000007.12:g.44547446A>T NCBI36
NG_013088.1:g.4994T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.-63T>A MANE Select ENSP00000370552.3:n.-63T>A
XM_011515327.1:c.-63T>A XP_011513629.1:n.-63T>A
XM_011515326.3:c.-63T>A XP_011513628.1:n.-63T>A
XR_002956423.1:n.330T>A
NM_001101648.2:c.-63T>A MANE Select NP_001095118.1:n.-63T>A
NM_001300967.2:c.-63T>A NP_001287896.1:n.-63T>A
NM_013389.3:c.-63T>A NP_037521.2:n.-63T>A
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