Canonical Allele Identifier: CA915458957

Gene: NPC1L1

Linked Data

• dbSNP Id: rs1562574271
• gnomAD v2: 7-44580802-C-T
• gnomAD v3: 7-44541203-C-T
• gnomAD v4: 7-44541203-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541203C>T , CM000669.2:g.44541203C>T	GRCh38
NC_000007.13:g.44580802C>T , CM000669.1:g.44580802C>T	GRCh37
NC_000007.12:g.44547327C>T	NCBI36
NG_013088.1:g.5113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.54+3G>A MANE Select	ENSP00000370552.3:n.54+3G>A
ENST00000289547.8:c.54+3G>A	ENSP00000289547.4:n.54+3G>A
ENST00000381160.7:c.54+3G>A	ENSP00000370552.3:n.54+3G>A
ENST00000423141.1:c.54+3G>A	ENSP00000404670.1:n.54+3G>A
ENST00000546276.5:c.54+3G>A	ENSP00000438033.1:n.54+3G>A
NM_001101648.1:c.54+3G>A	NP_001095118.1:n.54+3G>A
NM_001300967.1:c.54+3G>A	NP_001287896.1:n.54+3G>A
NM_013389.2:c.54+3G>A	NP_037521.2:n.54+3G>A
XM_011515326.1:c.54+3G>A	XP_011513628.1:n.54+3G>A
XM_011515327.1:c.54+3G>A	XP_011513629.1:n.54+3G>A
XM_011515326.3:c.54+3G>A	XP_011513628.1:n.54+3G>A
XR_002956423.1:n.446+3G>A
NM_001101648.2:c.54+3G>A MANE Select	NP_001095118.1:n.54+3G>A
NM_001300967.2:c.54+3G>A	NP_001287896.1:n.54+3G>A
NM_013389.3:c.54+3G>A	NP_037521.2:n.54+3G>A