Canonical Allele Identifier: CA503324861

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1990697
• ClinVar RCV Id: RCV002805773
• dbSNP Id: rs1350898141
• gnomAD v3: 18-23551661-T-G
• gnomAD v4: 18-23551661-T-G
• MyVariant Identifiers: chr18:g.21131625T>G (hg19) ; chr18:g.23551661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551661T>G , CM000680.2:g.23551661T>G	GRCh38
NC_000018.9:g.21131625T>G , CM000680.1:g.21131625T>G	GRCh37
NC_000018.8:g.19385623T>G	NCBI36
NG_012795.1:g.39957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1620A>C MANE Select	ENSP00000269228.4:p.Pro540=
ENST00000269228.9:c.1620A>C	ENSP00000269228.4:p.Pro540=
ENST00000540608.5:n.1534A>C
ENST00000590301.1:n.295A>C
ENST00000591051.1:c.835+3097A>C
NM_000271.4:c.1620A>C	NP_000262.2:p.Pro540=
XM_005258277.1:c.1671A>C	XP_005258334.1:p.Pro557=
XM_005258278.3:c.1671A>C	XP_005258335.1:p.Pro557=
XM_005258279.1:c.1620A>C	XP_005258336.1:p.Pro540=
XM_006722479.2:c.1671A>C	XP_006722542.1:p.Pro557=
XM_011526015.1:c.1206A>C	XP_011524317.1:p.Pro402=
XM_005258278.5:c.1671A>C	XP_005258335.1:p.Pro557=
XM_005258279.2:c.1620A>C	XP_005258336.1:p.Pro540=
XM_006722479.3:c.1671A>C	XP_006722542.1:p.Pro557=
XM_017025784.1:c.1671A>C	XP_016881273.1:p.Pro557=
XM_017025785.1:c.1671A>C	XP_016881274.1:p.Pro557=
XM_017025786.1:c.1620A>C	XP_016881275.1:p.Pro540=
XM_017025787.1:c.1620A>C	XP_016881276.1:p.Pro540=
NM_000271.5:c.1620A>C MANE Select	NP_000262.2:p.Pro540=