Canonical Allele Identifier: CA367400148

Gene: NPC1L1

Linked Data

• MyVariant Identifiers: chr7:g.44580803A>T (hg19) ; chr7:g.44541204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541204A>T , CM000669.2:g.44541204A>T	GRCh38
NC_000007.13:g.44580803A>T , CM000669.1:g.44580803A>T	GRCh37
NC_000007.12:g.44547328A>T	NCBI36
NG_013088.1:g.5112T>A

Transcript Alleles

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