Canonical Allele Identifier: CA916083639

Gene: NPC1

Linked Data

• ClinVar Variation Id: 847972
• ClinVar RCV Id: RCV001051622
• dbSNP Id: rs2058769608

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545060dup , CM000680.2:g.23545060dup	GRCh38
NC_000018.9:g.21125024dup , CM000680.1:g.21125024dup	GRCh37
NC_000018.8:g.19379022dup	NCBI36
NG_012795.1:g.46560dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1849dup MANE Select	ENSP00000269228.4:p.Ser617LysfsTer2
ENST00000269228.9:c.1849dup	ENSP00000269228.4:p.Ser617LysfsTer2
ENST00000540608.5:n.1763dup
ENST00000591051.1:c.927dup
NM_000271.4:c.1849dup	NP_000262.2:p.Ser617LysfsTer2
XM_005258277.1:c.1900dup	XP_005258334.1:p.Ser634LysfsTer2
XM_005258278.3:c.1900dup	XP_005258335.1:p.Ser634LysfsTer2
XM_005258279.1:c.1849dup	XP_005258336.1:p.Ser617LysfsTer2
XM_006722479.2:c.1900dup	XP_006722542.1:p.Ser634LysfsTer2
XM_011526015.1:c.1435dup	XP_011524317.1:p.Ser479LysfsTer2
XM_005258278.5:c.1900dup	XP_005258335.1:p.Ser634LysfsTer2
XM_005258279.2:c.1849dup	XP_005258336.1:p.Ser617LysfsTer2
XM_006722479.3:c.1900dup	XP_006722542.1:p.Ser634LysfsTer2
XM_017025784.1:c.1900dup	XP_016881273.1:p.Ser634LysfsTer2
XM_017025785.1:c.1900dup	XP_016881274.1:p.Ser634LysfsTer2
XM_017025786.1:c.1849dup	XP_016881275.1:p.Ser617LysfsTer2
XM_017025787.1:c.1849dup	XP_016881276.1:p.Ser617LysfsTer2
NM_000271.5:c.1849dup MANE Select	NP_000262.2:p.Ser617LysfsTer2