Canonical Allele Identifier: CA8913747

Gene: NPC1

Linked Data

• ClinVar Variation Id: 503633
• ClinVar RCV Id: RCV000599506 ; RCV000984200 ; RCV001193397
• dbSNP Id: rs773941375
• ExAC: 18:21148825 T / TTC
• gnomAD v2: 18-21148825-T-TTC
• gnomAD v3: 18-23568861-T-TTC
• gnomAD v4: 18-23568861-T-TTC
• MyVariant Identifiers: chr18:g.21148826_21148827dup (hg19) ; chr18:g.21148825_21148826insTC (hg19) ; chr18:g.23568862_23568863dup (hg38) ; chr18:g.23568861_23568862insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568862_23568863dup , CM000680.2:g.23568862_23568863dup	GRCh38
NC_000018.9:g.21148826_21148827dup , CM000680.1:g.21148826_21148827dup	GRCh37
NC_000018.8:g.19402824_19402825dup	NCBI36
NG_012795.1:g.22755_22756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.423_424dup MANE Select	ENSP00000269228.4:p.Lys142ArgfsTer?
ENST00000269228.9:c.423_424dup	ENSP00000269228.4:p.Lys142ArgfsTer?
ENST00000540608.5:n.337_338dup
NM_000271.4:c.423_424dup	NP_000262.2:p.Lys142ArgfsTer?
XM_005258277.1:c.423_424dup	XP_005258334.1:p.Lys142ArgfsTer?
XM_005258278.3:c.423_424dup	XP_005258335.1:p.Lys142ArgfsTer?
XM_005258279.1:c.423_424dup	XP_005258336.1:p.Lys142ArgfsTer?
XM_006722479.2:c.423_424dup	XP_006722542.1:p.Lys142ArgfsTer?
XM_011526015.1:c.-43_-42dup	XP_011524317.1:n.-43_-42dup
XM_005258278.5:c.423_424dup	XP_005258335.1:p.Lys142ArgfsTer?
XM_005258279.2:c.423_424dup	XP_005258336.1:p.Lys142ArgfsTer?
XM_006722479.3:c.423_424dup	XP_006722542.1:p.Lys142ArgfsTer?
XM_017025784.1:c.423_424dup	XP_016881273.1:p.Lys142ArgfsTer?
XM_017025785.1:c.423_424dup	XP_016881274.1:p.Lys142ArgfsTer?
XM_017025786.1:c.423_424dup	XP_016881275.1:p.Lys142ArgfsTer?
XM_017025787.1:c.423_424dup	XP_016881276.1:p.Lys142ArgfsTer?
NM_000271.5:c.423_424dup MANE Select	NP_000262.2:p.Lys142ArgfsTer?