Canonical Allele Identifier: CA297079167

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1358191
• ClinVar RCV Id: RCV001864018
• dbSNP Id: rs144725473
• gnomAD v2: 18-21115488-A-C
• gnomAD v3: 18-23535524-A-C
• gnomAD v4: 18-23535524-A-C
• MyVariant Identifiers: chr18:g.21115488A>C (hg19) ; chr18:g.23535524A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535524A>C , CM000680.2:g.23535524A>C	GRCh38
NC_000018.9:g.21115488A>C , CM000680.1:g.21115488A>C	GRCh37
NC_000018.8:g.19369486A>C	NCBI36
NG_012795.1:g.56094T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3422T>G MANE Select	ENSP00000269228.4:p.Val1141Gly
ENST00000269228.9:c.3422T>G	ENSP00000269228.4:p.Val1141Gly
ENST00000586150.5:c.177T>G
ENST00000588867.1:n.177T>G
ENST00000591051.1:c.2500T>G
ENST00000591107.6:c.99T>G
NM_000271.4:c.3422T>G	NP_000262.2:p.Val1141Gly
XM_005258277.1:c.3473T>G	XP_005258334.1:p.Val1158Gly
XM_005258278.3:c.3473T>G	XP_005258335.1:p.Val1158Gly
XM_005258279.1:c.3422T>G	XP_005258336.1:p.Val1141Gly
XM_006722479.2:c.3473T>G	XP_006722542.1:p.Val1158Gly
XM_011526015.1:c.3008T>G	XP_011524317.1:p.Val1003Gly
XM_005258278.5:c.3473T>G	XP_005258335.1:p.Val1158Gly
XM_005258279.2:c.3422T>G	XP_005258336.1:p.Val1141Gly
XM_006722479.3:c.3473T>G	XP_006722542.1:p.Val1158Gly
XM_017025784.1:c.3473T>G	XP_016881273.1:p.Val1158Gly
XM_017025785.1:c.3473T>G	XP_016881274.1:p.Val1158Gly
XM_017025786.1:c.3422T>G	XP_016881275.1:p.Val1141Gly
XM_017025787.1:c.3422T>G	XP_016881276.1:p.Val1141Gly
NM_000271.5:c.3422T>G MANE Select	NP_000262.2:p.Val1141Gly