Canonical Allele Identifier: CA367395190

Gene: NPC1L1

Linked Data

• dbSNP Id: rs1465944670
• gnomAD v2: 7-44578878-G-C
• gnomAD v3: 7-44539279-G-C
• gnomAD v4: 7-44539279-G-C
• MyVariant Identifiers: chr7:g.44578878G>C (hg19) ; chr7:g.44539279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539279G>C , CM000669.2:g.44539279G>C	GRCh38
NC_000007.13:g.44578878G>C , CM000669.1:g.44578878G>C	GRCh37
NC_000007.12:g.44545403G>C	NCBI36
NG_013088.1:g.7037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1118C>G MANE Select	ENSP00000370552.3:p.Thr373Arg
ENST00000289547.8:c.1118C>G	ENSP00000289547.4:p.Thr373Arg
ENST00000381160.7:c.1118C>G	ENSP00000370552.3:p.Thr373Arg
ENST00000423141.1:c.1118C>G	ENSP00000404670.1:p.Thr373Arg
ENST00000546276.5:c.1118C>G	ENSP00000438033.1:p.Thr373Arg
NM_001101648.1:c.1118C>G	NP_001095118.1:p.Thr373Arg
NM_001300967.1:c.1118C>G	NP_001287896.1:p.Thr373Arg
NM_013389.2:c.1118C>G	NP_037521.2:p.Thr373Arg
XM_011515326.1:c.1118C>G	XP_011513628.1:p.Thr373Arg
XM_011515327.1:c.1118C>G	XP_011513629.1:p.Thr373Arg
XM_011515326.3:c.1118C>G	XP_011513628.1:p.Thr373Arg
XM_011515328.2:c.-250C>G	XP_011513630.1:n.-250C>G
XR_002956423.1:n.1510C>G
NM_001101648.2:c.1118C>G MANE Select	NP_001095118.1:p.Thr373Arg
NM_001300967.2:c.1118C>G	NP_001287896.1:p.Thr373Arg
NM_013389.3:c.1118C>G	NP_037521.2:p.Thr373Arg