Canonical Allele Identifier: CA8913457

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1417547
• ClinVar RCV Id: RCV001938450
• dbSNP Id: rs748246747
• ExAC: 18:21134776 C / T
• gnomAD v2: 18-21134776-C-T
• gnomAD v3: 18-23554812-C-T
• gnomAD v4: 18-23554812-C-T
• MyVariant Identifiers: chr18:g.21134776C>T (hg19) ; chr18:g.23554812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554812C>T , CM000680.2:g.23554812C>T	GRCh38
NC_000018.9:g.21134776C>T , CM000680.1:g.21134776C>T	GRCh37
NC_000018.8:g.19388774C>T	NCBI36
NG_012795.1:g.36806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1499G>A MANE Select	ENSP00000269228.4:p.Gly500Glu
ENST00000269228.9:c.1499G>A	ENSP00000269228.4:p.Gly500Glu
ENST00000540608.5:n.1413G>A
ENST00000590301.1:n.174G>A
ENST00000591051.1:c.781G>A
NM_000271.4:c.1499G>A	NP_000262.2:p.Gly500Glu
XM_005258277.1:c.1550G>A	XP_005258334.1:p.Gly517Glu
XM_005258278.3:c.1550G>A	XP_005258335.1:p.Gly517Glu
XM_005258279.1:c.1499G>A	XP_005258336.1:p.Gly500Glu
XM_006722479.2:c.1550G>A	XP_006722542.1:p.Gly517Glu
XM_011526015.1:c.1085G>A	XP_011524317.1:p.Gly362Glu
XM_005258278.5:c.1550G>A	XP_005258335.1:p.Gly517Glu
XM_005258279.2:c.1499G>A	XP_005258336.1:p.Gly500Glu
XM_006722479.3:c.1550G>A	XP_006722542.1:p.Gly517Glu
XM_017025784.1:c.1550G>A	XP_016881273.1:p.Gly517Glu
XM_017025785.1:c.1550G>A	XP_016881274.1:p.Gly517Glu
XM_017025786.1:c.1499G>A	XP_016881275.1:p.Gly500Glu
XM_017025787.1:c.1499G>A	XP_016881276.1:p.Gly500Glu
NM_000271.5:c.1499G>A MANE Select	NP_000262.2:p.Gly500Glu