Canonical Allele Identifier: CA8913528

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1587401
• ClinVar RCV Id: RCV002103260 ; RCV002454436 ; RCV003893277
• dbSNP Id: rs746501807
• ExAC: 18:21136393 G / C
• gnomAD v2: 18-21136393-G-C
• gnomAD v3: 18-23556429-G-C
• gnomAD v4: 18-23556429-G-C
• MyVariant Identifiers: chr18:g.21136393G>C (hg19) ; chr18:g.23556429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556429G>C , CM000680.2:g.23556429G>C	GRCh38
NC_000018.9:g.21136393G>C , CM000680.1:g.21136393G>C	GRCh37
NC_000018.8:g.19390391G>C	NCBI36
NG_012795.1:g.35189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1140C>G MANE Select	ENSP00000269228.4:p.Leu380=
ENST00000269228.9:c.1140C>G	ENSP00000269228.4:p.Leu380=
ENST00000540608.5:n.1054C>G
ENST00000591051.1:c.422C>G
NM_000271.4:c.1140C>G	NP_000262.2:p.Leu380=
XM_005258277.1:c.1191C>G	XP_005258334.1:p.Leu397=
XM_005258278.3:c.1191C>G	XP_005258335.1:p.Leu397=
XM_005258279.1:c.1140C>G	XP_005258336.1:p.Leu380=
XM_006722479.2:c.1191C>G	XP_006722542.1:p.Leu397=
XM_011526015.1:c.726C>G	XP_011524317.1:p.Leu242=
XM_005258278.5:c.1191C>G	XP_005258335.1:p.Leu397=
XM_005258279.2:c.1140C>G	XP_005258336.1:p.Leu380=
XM_006722479.3:c.1191C>G	XP_006722542.1:p.Leu397=
XM_017025784.1:c.1191C>G	XP_016881273.1:p.Leu397=
XM_017025785.1:c.1191C>G	XP_016881274.1:p.Leu397=
XM_017025786.1:c.1140C>G	XP_016881275.1:p.Leu380=
XM_017025787.1:c.1140C>G	XP_016881276.1:p.Leu380=
NM_000271.5:c.1140C>G MANE Select	NP_000262.2:p.Leu380=