Canonical Allele Identifier: CA8913471

Gene: NPC1

Linked Data

• dbSNP Id: rs530310492
• ExAC: 18:21134870 A / C
• gnomAD v2: 18-21134870-A-C
• gnomAD v3: 18-23554906-A-C
• gnomAD v4: 18-23554906-A-C
• MyVariant Identifiers: chr18:g.21134870A>C (hg19) ; chr18:g.23554906A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554906A>C , CM000680.2:g.23554906A>C	GRCh38
NC_000018.9:g.21134870A>C , CM000680.1:g.21134870A>C	GRCh37
NC_000018.8:g.19388868A>C	NCBI36
NG_012795.1:g.36712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1405T>G MANE Select	ENSP00000269228.4:p.Leu469Val
ENST00000269228.9:c.1405T>G	ENSP00000269228.4:p.Leu469Val
ENST00000540608.5:n.1319T>G
ENST00000590301.1:n.80T>G
ENST00000591051.1:c.687T>G
NM_000271.4:c.1405T>G	NP_000262.2:p.Leu469Val
XM_005258277.1:c.1456T>G	XP_005258334.1:p.Leu486Val
XM_005258278.3:c.1456T>G	XP_005258335.1:p.Leu486Val
XM_005258279.1:c.1405T>G	XP_005258336.1:p.Leu469Val
XM_006722479.2:c.1456T>G	XP_006722542.1:p.Leu486Val
XM_011526015.1:c.991T>G	XP_011524317.1:p.Leu331Val
XM_005258278.5:c.1456T>G	XP_005258335.1:p.Leu486Val
XM_005258279.2:c.1405T>G	XP_005258336.1:p.Leu469Val
XM_006722479.3:c.1456T>G	XP_006722542.1:p.Leu486Val
XM_017025784.1:c.1456T>G	XP_016881273.1:p.Leu486Val
XM_017025785.1:c.1456T>G	XP_016881274.1:p.Leu486Val
XM_017025786.1:c.1405T>G	XP_016881275.1:p.Leu469Val
XM_017025787.1:c.1405T>G	XP_016881276.1:p.Leu469Val
NM_000271.5:c.1405T>G MANE Select	NP_000262.2:p.Leu469Val