Canonical Allele Identifier: CA8912782

Gene: NPC1

Linked Data

• ClinVar Variation Id: 372435
• ClinVar RCV Id: RCV000414430 ; RCV000665209
• dbSNP Id: rs778878523
• ExAC: 18:21115485 A / G
• gnomAD v2: 18-21115485-A-G
• gnomAD v4: 18-23535521-A-G
• MyVariant Identifiers: chr18:g.21115485A>G (hg19) ; chr18:g.23535521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535521A>G , CM000680.2:g.23535521A>G	GRCh38
NC_000018.9:g.21115485A>G , CM000680.1:g.21115485A>G	GRCh37
NC_000018.8:g.19369483A>G	NCBI36
NG_012795.1:g.56097T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3425T>C MANE Select	ENSP00000269228.4:p.Met1142Thr
ENST00000269228.9:c.3425T>C	ENSP00000269228.4:p.Met1142Thr
ENST00000586150.5:c.180T>C
ENST00000588867.1:n.180T>C
ENST00000591051.1:c.2503T>C
ENST00000591107.6:c.102T>C
NM_000271.4:c.3425T>C	NP_000262.2:p.Met1142Thr
XM_005258277.1:c.3476T>C	XP_005258334.1:p.Met1159Thr
XM_005258278.3:c.3476T>C	XP_005258335.1:p.Met1159Thr
XM_005258279.1:c.3425T>C	XP_005258336.1:p.Met1142Thr
XM_006722479.2:c.3476T>C	XP_006722542.1:p.Met1159Thr
XM_011526015.1:c.3011T>C	XP_011524317.1:p.Met1004Thr
XM_005258278.5:c.3476T>C	XP_005258335.1:p.Met1159Thr
XM_005258279.2:c.3425T>C	XP_005258336.1:p.Met1142Thr
XM_006722479.3:c.3476T>C	XP_006722542.1:p.Met1159Thr
XM_017025784.1:c.3476T>C	XP_016881273.1:p.Met1159Thr
XM_017025785.1:c.3476T>C	XP_016881274.1:p.Met1159Thr
XM_017025786.1:c.3425T>C	XP_016881275.1:p.Met1142Thr
XM_017025787.1:c.3425T>C	XP_016881276.1:p.Met1142Thr
NM_000271.5:c.3425T>C MANE Select	NP_000262.2:p.Met1142Thr