Canonical Allele Identifier: CA2573155197

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1442637
• ClinVar RCV Id: RCV001953097
• dbSNP Id: rs2145366898

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538629_23538630insA , CM000680.2:g.23538629_23538630insA	GRCh38
NC_000018.9:g.21118593_21118594insA , CM000680.1:g.21118593_21118594insA	GRCh37
NC_000018.8:g.19372591_19372592insA	NCBI36
NG_012795.1:g.52988_52989insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2953_2954insT MANE Select	ENSP00000269228.4:p.Glu985ValfsTer22
ENST00000269228.9:c.2953_2954insT	ENSP00000269228.4:p.Glu985ValfsTer22
ENST00000591051.1:c.2031_2032insT
ENST00000591075.1:n.586_587insT
ENST00000591955.1:n.296_297insT
NM_000271.4:c.2953_2954insT	NP_000262.2:p.Glu985ValfsTer22
XM_005258277.1:c.3004_3005insT	XP_005258334.1:p.Glu1002ValfsTer22
XM_005258278.3:c.3004_3005insT	XP_005258335.1:p.Glu1002ValfsTer22
XM_005258279.1:c.2953_2954insT	XP_005258336.1:p.Glu985ValfsTer22
XM_006722479.2:c.3004_3005insT	XP_006722542.1:p.Glu1002ValfsTer22
XM_011526015.1:c.2539_2540insT	XP_011524317.1:p.Glu847ValfsTer22
XM_005258278.5:c.3004_3005insT	XP_005258335.1:p.Glu1002ValfsTer22
XM_005258279.2:c.2953_2954insT	XP_005258336.1:p.Glu985ValfsTer22
XM_006722479.3:c.3004_3005insT	XP_006722542.1:p.Glu1002ValfsTer22
XM_017025784.1:c.3004_3005insT	XP_016881273.1:p.Glu1002ValfsTer22
XM_017025785.1:c.3004_3005insT	XP_016881274.1:p.Glu1002ValfsTer22
XM_017025786.1:c.2953_2954insT	XP_016881275.1:p.Glu985ValfsTer22
XM_017025787.1:c.2953_2954insT	XP_016881276.1:p.Glu985ValfsTer22
NM_000271.5:c.2953_2954insT MANE Select	NP_000262.2:p.Glu985ValfsTer22