Canonical Allele Identifier: CA913190527

Gene: NPC1

Linked Data

• ClinVar Variation Id: 594826
• ClinVar RCV Id: RCV000730206
• dbSNP Id: rs1567969413

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560374_23560375delinsTG , CM000680.2:g.23560374_23560375delinsTG	GRCh38
NC_000018.9:g.21140338_21140339delinsTG , CM000680.1:g.21140338_21140339delinsTG	GRCh37
NC_000018.8:g.19394336_19394337delinsTG	NCBI36
NG_012795.1:g.31243_31244delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.737_738delinsCA MANE Select	ENSP00000269228.4:p.Val246Ala
ENST00000269228.9:c.737_738delinsCA	ENSP00000269228.4:p.Val246Ala
ENST00000540608.5:n.651_652delinsCA
NM_000271.4:c.737_738delinsCA	NP_000262.2:p.Val246Ala
XM_005258277.1:c.737_738delinsCA	XP_005258334.1:p.Val246Ala
XM_005258278.3:c.737_738delinsCA	XP_005258335.1:p.Val246Ala
XM_005258279.1:c.737_738delinsCA	XP_005258336.1:p.Val246Ala
XM_006722479.2:c.737_738delinsCA	XP_006722542.1:p.Val246Ala
XM_011526015.1:c.272_273delinsCA	XP_011524317.1:p.Val91Ala
XM_005258278.5:c.737_738delinsCA	XP_005258335.1:p.Val246Ala
XM_005258279.2:c.737_738delinsCA	XP_005258336.1:p.Val246Ala
XM_006722479.3:c.737_738delinsCA	XP_006722542.1:p.Val246Ala
XM_017025784.1:c.737_738delinsCA	XP_016881273.1:p.Val246Ala
XM_017025785.1:c.737_738delinsCA	XP_016881274.1:p.Val246Ala
XM_017025786.1:c.737_738delinsCA	XP_016881275.1:p.Val246Ala
XM_017025787.1:c.737_738delinsCA	XP_016881276.1:p.Val246Ala
NM_000271.5:c.737_738delinsCA MANE Select	NP_000262.2:p.Val246Ala