Canonical Allele Identifier: CA4242244

Gene: NPC1L1

Linked Data

• dbSNP Id: rs558058946
• ExAC: 7:44578733 C / G
• gnomAD v2: 7-44578733-C-G
• gnomAD v3: 7-44539134-C-G
• gnomAD v4: 7-44539134-C-G
• MyVariant Identifiers: chr7:g.44578733C>G (hg19) ; chr7:g.44539134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539134C>G , CM000669.2:g.44539134C>G	GRCh38
NC_000007.13:g.44578733C>G , CM000669.1:g.44578733C>G	GRCh37
NC_000007.12:g.44545258C>G	NCBI36
NG_013088.1:g.7182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1263G>C MANE Select	ENSP00000370552.3:p.Arg421Ser
ENST00000289547.8:c.1263G>C	ENSP00000289547.4:p.Arg421Ser
ENST00000381160.7:c.1263G>C	ENSP00000370552.3:p.Arg421Ser
ENST00000423141.1:c.1263G>C	ENSP00000404670.1:p.Arg421Ser
ENST00000546276.5:c.1263G>C	ENSP00000438033.1:p.Arg421Ser
NM_001101648.1:c.1263G>C	NP_001095118.1:p.Arg421Ser
NM_001300967.1:c.1263G>C	NP_001287896.1:p.Arg421Ser
NM_013389.2:c.1263G>C	NP_037521.2:p.Arg421Ser
XM_011515326.1:c.1263G>C	XP_011513628.1:p.Arg421Ser
XM_011515327.1:c.1263G>C	XP_011513629.1:p.Arg421Ser
XM_011515328.1:c.-105G>C	XP_011513630.1:n.-105G>C
XM_011515326.3:c.1263G>C	XP_011513628.1:p.Arg421Ser
XM_011515328.2:c.-105G>C	XP_011513630.1:n.-105G>C
XR_002956423.1:n.1655G>C
NM_001101648.2:c.1263G>C MANE Select	NP_001095118.1:p.Arg421Ser
NM_001300967.2:c.1263G>C	NP_001287896.1:p.Arg421Ser
NM_013389.3:c.1263G>C	NP_037521.2:p.Arg421Ser