Canonical Allele Identifier: CA8912986

Gene: NPC1

Linked Data

• dbSNP Id: rs781705801
• ExAC: 18:21119835 A / G
• gnomAD v2: 18-21119835-A-G
• gnomAD v4: 18-23539871-A-G
• MyVariant Identifiers: chr18:g.21119835A>G (hg19) ; chr18:g.23539871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539871A>G , CM000680.2:g.23539871A>G	GRCh38
NC_000018.9:g.21119835A>G , CM000680.1:g.21119835A>G	GRCh37
NC_000018.8:g.19373833A>G	NCBI36
NG_012795.1:g.51747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2735T>C MANE Select	ENSP00000269228.4:p.Met912Thr
ENST00000269228.9:c.2735T>C	ENSP00000269228.4:p.Met912Thr
ENST00000540608.5:n.2649T>C
ENST00000586718.1:n.526T>C
ENST00000591051.1:c.1813T>C
ENST00000591075.1:n.28T>C
NM_000271.4:c.2735T>C	NP_000262.2:p.Met912Thr
XM_005258277.1:c.2786T>C	XP_005258334.1:p.Met929Thr
XM_005258278.3:c.2786T>C	XP_005258335.1:p.Met929Thr
XM_005258279.1:c.2735T>C	XP_005258336.1:p.Met912Thr
XM_006722479.2:c.2786T>C	XP_006722542.1:p.Met929Thr
XM_011526015.1:c.2321T>C	XP_011524317.1:p.Met774Thr
XM_005258278.5:c.2786T>C	XP_005258335.1:p.Met929Thr
XM_005258279.2:c.2735T>C	XP_005258336.1:p.Met912Thr
XM_006722479.3:c.2786T>C	XP_006722542.1:p.Met929Thr
XM_017025784.1:c.2786T>C	XP_016881273.1:p.Met929Thr
XM_017025785.1:c.2786T>C	XP_016881274.1:p.Met929Thr
XM_017025786.1:c.2735T>C	XP_016881275.1:p.Met912Thr
XM_017025787.1:c.2735T>C	XP_016881276.1:p.Met912Thr
NM_000271.5:c.2735T>C MANE Select	NP_000262.2:p.Met912Thr