Canonical Allele Identifier: CA4241808

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44531861T>G , CM000669.2:g.44531861T>G	GRCh38
NC_000007.13:g.44571460T>G , CM000669.1:g.44571460T>G	GRCh37
NC_000007.12:g.44537985T>G	NCBI36
NG_013088.1:g.14455A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001101648.2:c.2548-17A>C MANE Select	NP_001095118.1:n.2548-17A>C
ENST00000381160.8:c.2548-17A>C MANE Select	ENSP00000370552.3:n.2548-17A>C
NM_001101648.1:c.2548-17A>C	NP_001095118.1:n.2548-17A>C
NM_013389.2:c.2548-17A>C	NP_037521.2:n.2548-17A>C
NM_013389.3:c.2548-17A>C	NP_037521.2:n.2548-17A>C
ENST00000289547.8:c.2548-17A>C	ENSP00000289547.4:n.2548-17A>C
ENST00000381160.7:c.2548-17A>C	ENSP00000370552.3:n.2548-17A>C
ENST00000546276.5:c.2547+219A>C	ENSP00000438033.1:n.2547+219A>C
XM_011515326.1:c.2353-17A>C	XP_011513628.1:n.2353-17A>C
XM_011515326.3:c.2353-17A>C	XP_011513628.1:n.2353-17A>C
XM_011515327.1:c.2468-17A>C	XP_011513629.1:n.2468-17A>C
XM_011515328.1:c.907-17A>C	XP_011513630.1:n.907-17A>C
XM_011515328.2:c.907-17A>C	XP_011513630.1:n.907-17A>C
XR_002956423.1:n.2860-17A>C