Canonical Allele Identifier: CA777718519

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1451363
• ClinVar RCV Id: RCV002035282
• dbSNP Id: rs1352485089
• gnomAD v3: 18-23538557-G-GGTTA
• gnomAD v4: 18-23538557-G-GGTTA
• MyVariant Identifiers: chr18:g.21118521_21118522insGTTA (hg19) ; chr18:g.23538557_23538558insGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538558_23538559insTTAG , CM000680.2:g.23538558_23538559insTTAG	GRCh38
NC_000018.9:g.21118522_21118523insTTAG , CM000680.1:g.21118522_21118523insTTAG	GRCh37
NC_000018.8:g.19372520_19372521insTTAG	NCBI36
NG_012795.1:g.53060_53061insTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3025_3026insTAAC MANE Select	ENSP00000269228.4:p.Pro1009LeufsTer13
ENST00000269228.9:c.3025_3026insTAAC	ENSP00000269228.4:p.Pro1009LeufsTer13
ENST00000591051.1:c.2103_2104insTAAC
ENST00000591075.1:n.658_659insTAAC
ENST00000591955.1:n.368_369insTAAC
NM_000271.4:c.3025_3026insTAAC	NP_000262.2:p.Pro1009LeufsTer13
XM_005258277.1:c.3076_3077insTAAC	XP_005258334.1:p.Pro1026LeufsTer13
XM_005258278.3:c.3076_3077insTAAC	XP_005258335.1:p.Pro1026LeufsTer13
XM_005258279.1:c.3025_3026insTAAC	XP_005258336.1:p.Pro1009LeufsTer13
XM_006722479.2:c.3076_3077insTAAC	XP_006722542.1:p.Pro1026LeufsTer13
XM_011526015.1:c.2611_2612insTAAC	XP_011524317.1:p.Pro871LeufsTer13
XM_005258278.5:c.3076_3077insTAAC	XP_005258335.1:p.Pro1026LeufsTer13
XM_005258279.2:c.3025_3026insTAAC	XP_005258336.1:p.Pro1009LeufsTer13
XM_006722479.3:c.3076_3077insTAAC	XP_006722542.1:p.Pro1026LeufsTer13
XM_017025784.1:c.3076_3077insTAAC	XP_016881273.1:p.Pro1026LeufsTer13
XM_017025785.1:c.3076_3077insTAAC	XP_016881274.1:p.Pro1026LeufsTer13
XM_017025786.1:c.3025_3026insTAAC	XP_016881275.1:p.Pro1009LeufsTer13
XM_017025787.1:c.3025_3026insTAAC	XP_016881276.1:p.Pro1009LeufsTer13
NM_000271.5:c.3025_3026insTAAC MANE Select	NP_000262.2:p.Pro1009LeufsTer13