Canonical Allele Identifier: CA401776225

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2690924
• ClinVar RCV Id: RCV003486394
• dbSNP Id: rs2058928045
• gnomAD v3: 18-23554903-C-G
• gnomAD v4: 18-23554903-C-G
• MyVariant Identifiers: chr18:g.21134867C>G (hg19) ; chr18:g.23554903C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554903C>G , CM000680.2:g.23554903C>G	GRCh38
NC_000018.9:g.21134867C>G , CM000680.1:g.21134867C>G	GRCh37
NC_000018.8:g.19388865C>G	NCBI36
NG_012795.1:g.36715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1408G>C MANE Select	ENSP00000269228.4:p.Ala470Pro
ENST00000269228.9:c.1408G>C	ENSP00000269228.4:p.Ala470Pro
ENST00000540608.5:n.1322G>C
ENST00000590301.1:n.83G>C
ENST00000591051.1:c.690G>C
NM_000271.4:c.1408G>C	NP_000262.2:p.Ala470Pro
XM_005258277.1:c.1459G>C	XP_005258334.1:p.Ala487Pro
XM_005258278.3:c.1459G>C	XP_005258335.1:p.Ala487Pro
XM_005258279.1:c.1408G>C	XP_005258336.1:p.Ala470Pro
XM_006722479.2:c.1459G>C	XP_006722542.1:p.Ala487Pro
XM_011526015.1:c.994G>C	XP_011524317.1:p.Ala332Pro
XM_005258278.5:c.1459G>C	XP_005258335.1:p.Ala487Pro
XM_005258279.2:c.1408G>C	XP_005258336.1:p.Ala470Pro
XM_006722479.3:c.1459G>C	XP_006722542.1:p.Ala487Pro
XM_017025784.1:c.1459G>C	XP_016881273.1:p.Ala487Pro
XM_017025785.1:c.1459G>C	XP_016881274.1:p.Ala487Pro
XM_017025786.1:c.1408G>C	XP_016881275.1:p.Ala470Pro
XM_017025787.1:c.1408G>C	XP_016881276.1:p.Ala470Pro
NM_000271.5:c.1408G>C MANE Select	NP_000262.2:p.Ala470Pro