Canonical Allele Identifier: CA2573054631

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1331427
• ClinVar RCV Id: RCV001806771
• dbSNP Id: rs2145350930

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535598dup , CM000680.2:g.23535598dup	GRCh38
NC_000018.9:g.21115562dup , CM000680.1:g.21115562dup	GRCh37
NC_000018.8:g.19369560dup	NCBI36
NG_012795.1:g.56021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3349dup MANE Select	ENSP00000269228.4:p.Leu1117ProfsTer4
ENST00000269228.9:c.3349dup	ENSP00000269228.4:p.Leu1117ProfsTer4
ENST00000586150.5:c.104dup
ENST00000588867.1:n.104dup
ENST00000591051.1:c.2427dup
ENST00000591107.6:c.26dup
NM_000271.4:c.3349dup	NP_000262.2:p.Leu1117ProfsTer4
XM_005258277.1:c.3400dup	XP_005258334.1:p.Leu1134ProfsTer4
XM_005258278.3:c.3400dup	XP_005258335.1:p.Leu1134ProfsTer4
XM_005258279.1:c.3349dup	XP_005258336.1:p.Leu1117ProfsTer4
XM_006722479.2:c.3400dup	XP_006722542.1:p.Leu1134ProfsTer4
XM_011526015.1:c.2935dup	XP_011524317.1:p.Leu979ProfsTer4
XM_005258278.5:c.3400dup	XP_005258335.1:p.Leu1134ProfsTer4
XM_005258279.2:c.3349dup	XP_005258336.1:p.Leu1117ProfsTer4
XM_006722479.3:c.3400dup	XP_006722542.1:p.Leu1134ProfsTer4
XM_017025784.1:c.3400dup	XP_016881273.1:p.Leu1134ProfsTer4
XM_017025785.1:c.3400dup	XP_016881274.1:p.Leu1134ProfsTer4
XM_017025786.1:c.3349dup	XP_016881275.1:p.Leu1117ProfsTer4
XM_017025787.1:c.3349dup	XP_016881276.1:p.Leu1117ProfsTer4
NM_000271.5:c.3349dup MANE Select	NP_000262.2:p.Leu1117ProfsTer4