Canonical Allele Identifier: CA8913061

Gene: NPC1

Linked Data

• ClinVar Variation Id: 499258
• ClinVar RCV Id: RCV000596349 ; RCV000649025 ; RCV003952965
• dbSNP Id: rs190298665
• ExAC: 18:21120492 A / G
• gnomAD v2: 18-21120492-A-G
• gnomAD v3: 18-23540528-A-G
• gnomAD v4: 18-23540528-A-G
• MyVariant Identifiers: chr18:g.21120492A>G (hg19) ; chr18:g.23540528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540528A>G , CM000680.2:g.23540528A>G	GRCh38
NC_000018.9:g.21120492A>G , CM000680.1:g.21120492A>G	GRCh37
NC_000018.8:g.19374490A>G	NCBI36
NG_012795.1:g.51090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2524T>C MANE Select	ENSP00000269228.4:p.Phe842Leu
ENST00000269228.9:c.2524T>C	ENSP00000269228.4:p.Phe842Leu
ENST00000540608.5:n.2438T>C
ENST00000586718.1:n.315T>C
ENST00000591051.1:c.1602T>C
NM_000271.4:c.2524T>C	NP_000262.2:p.Phe842Leu
XM_005258277.1:c.2575T>C	XP_005258334.1:p.Phe859Leu
XM_005258278.3:c.2575T>C	XP_005258335.1:p.Phe859Leu
XM_005258279.1:c.2524T>C	XP_005258336.1:p.Phe842Leu
XM_006722479.2:c.2575T>C	XP_006722542.1:p.Phe859Leu
XM_011526015.1:c.2110T>C	XP_011524317.1:p.Phe704Leu
XM_005258278.5:c.2575T>C	XP_005258335.1:p.Phe859Leu
XM_005258279.2:c.2524T>C	XP_005258336.1:p.Phe842Leu
XM_006722479.3:c.2575T>C	XP_006722542.1:p.Phe859Leu
XM_017025784.1:c.2575T>C	XP_016881273.1:p.Phe859Leu
XM_017025785.1:c.2575T>C	XP_016881274.1:p.Phe859Leu
XM_017025786.1:c.2524T>C	XP_016881275.1:p.Phe842Leu
XM_017025787.1:c.2524T>C	XP_016881276.1:p.Phe842Leu
NM_000271.5:c.2524T>C MANE Select	NP_000262.2:p.Phe842Leu