Canonical Allele Identifier: CA8912982

Gene: NPC1

Linked Data

• ClinVar Variation Id: 326257
• ClinVar RCV Id: RCV000936210 ; RCV003409516
• dbSNP Id: rs147419225
• ExAC: 18:21119795 G / A
• gnomAD v2: 18-21119795-G-A
• gnomAD v3: 18-23539831-G-A
• gnomAD v4: 18-23539831-G-A
• MyVariant Identifiers: chr18:g.21119795G>A (hg19) ; chr18:g.23539831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539831G>A , CM000680.2:g.23539831G>A	GRCh38
NC_000018.9:g.21119795G>A , CM000680.1:g.21119795G>A	GRCh37
NC_000018.8:g.19373793G>A	NCBI36
NG_012795.1:g.51787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2775C>T MANE Select	ENSP00000269228.4:p.Asn925=
ENST00000269228.9:c.2775C>T	ENSP00000269228.4:p.Asn925=
ENST00000540608.5:n.2689C>T
ENST00000586718.1:n.566C>T
ENST00000591051.1:c.1853C>T
ENST00000591075.1:n.68C>T
NM_000271.4:c.2775C>T	NP_000262.2:p.Asn925=
XM_005258277.1:c.2826C>T	XP_005258334.1:p.Asn942=
XM_005258278.3:c.2826C>T	XP_005258335.1:p.Asn942=
XM_005258279.1:c.2775C>T	XP_005258336.1:p.Asn925=
XM_006722479.2:c.2826C>T	XP_006722542.1:p.Asn942=
XM_011526015.1:c.2361C>T	XP_011524317.1:p.Asn787=
XM_005258278.5:c.2826C>T	XP_005258335.1:p.Asn942=
XM_005258279.2:c.2775C>T	XP_005258336.1:p.Asn925=
XM_006722479.3:c.2826C>T	XP_006722542.1:p.Asn942=
XM_017025784.1:c.2826C>T	XP_016881273.1:p.Asn942=
XM_017025785.1:c.2826C>T	XP_016881274.1:p.Asn942=
XM_017025786.1:c.2775C>T	XP_016881275.1:p.Asn925=
XM_017025787.1:c.2775C>T	XP_016881276.1:p.Asn925=
NM_000271.5:c.2775C>T MANE Select	NP_000262.2:p.Asn925=