Canonical Allele Identifier: CA503324879

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1552808
• ClinVar RCV Id: RCV002197112
• dbSNP Id: rs1567961433
• MyVariant Identifiers: chr18:g.21131649A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551685A>C , CM000680.2:g.23551685A>C	GRCh38
NC_000018.9:g.21131649A>C , CM000680.1:g.21131649A>C	GRCh37
NC_000018.8:g.19385647A>C	NCBI36
NG_012795.1:g.39933T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1596T>G MANE Select	ENSP00000269228.4:p.Pro532=
ENST00000269228.9:c.1596T>G	ENSP00000269228.4:p.Pro532=
ENST00000540608.5:n.1510T>G
ENST00000590301.1:n.271T>G
ENST00000591051.1:c.835+3073T>G
NM_000271.4:c.1596T>G	NP_000262.2:p.Pro532=
XM_005258277.1:c.1647T>G	XP_005258334.1:p.Pro549=
XM_005258278.3:c.1647T>G	XP_005258335.1:p.Pro549=
XM_005258279.1:c.1596T>G	XP_005258336.1:p.Pro532=
XM_006722479.2:c.1647T>G	XP_006722542.1:p.Pro549=
XM_011526015.1:c.1182T>G	XP_011524317.1:p.Pro394=
XM_005258278.5:c.1647T>G	XP_005258335.1:p.Pro549=
XM_005258279.2:c.1596T>G	XP_005258336.1:p.Pro532=
XM_006722479.3:c.1647T>G	XP_006722542.1:p.Pro549=
XM_017025784.1:c.1647T>G	XP_016881273.1:p.Pro549=
XM_017025785.1:c.1647T>G	XP_016881274.1:p.Pro549=
XM_017025786.1:c.1596T>G	XP_016881275.1:p.Pro532=
XM_017025787.1:c.1596T>G	XP_016881276.1:p.Pro532=
NM_000271.5:c.1596T>G MANE Select	NP_000262.2:p.Pro532=