Canonical Allele Identifier: CA367394640

Gene: NPC1L1

Linked Data

• ClinVar Variation Id: 2298425
• ClinVar RCV Id: RCV004147590
• MyVariant Identifiers: chr7:g.44578740C>A (hg19) ; chr7:g.44539141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539141C>A , CM000669.2:g.44539141C>A	GRCh38
NC_000007.13:g.44578740C>A , CM000669.1:g.44578740C>A	GRCh37
NC_000007.12:g.44545265C>A	NCBI36
NG_013088.1:g.7175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1256G>T MANE Select	ENSP00000370552.3:p.Ser419Ile
ENST00000289547.8:c.1256G>T	ENSP00000289547.4:p.Ser419Ile
ENST00000381160.7:c.1256G>T	ENSP00000370552.3:p.Ser419Ile
ENST00000423141.1:c.1256G>T	ENSP00000404670.1:p.Ser419Ile
ENST00000546276.5:c.1256G>T	ENSP00000438033.1:p.Ser419Ile
NM_001101648.1:c.1256G>T	NP_001095118.1:p.Ser419Ile
NM_001300967.1:c.1256G>T	NP_001287896.1:p.Ser419Ile
NM_013389.2:c.1256G>T	NP_037521.2:p.Ser419Ile
XM_011515326.1:c.1256G>T	XP_011513628.1:p.Ser419Ile
XM_011515327.1:c.1256G>T	XP_011513629.1:p.Ser419Ile
XM_011515328.1:c.-112G>T	XP_011513630.1:n.-112G>T
XM_011515326.3:c.1256G>T	XP_011513628.1:p.Ser419Ile
XM_011515328.2:c.-112G>T	XP_011513630.1:n.-112G>T
XR_002956423.1:n.1648G>T
NM_001101648.2:c.1256G>T MANE Select	NP_001095118.1:p.Ser419Ile
NM_001300967.2:c.1256G>T	NP_001287896.1:p.Ser419Ile
NM_013389.3:c.1256G>T	NP_037521.2:p.Ser419Ile