Canonical Allele Identifier: CA628978768

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2697353
• ClinVar RCV Id: RCV003500975
• dbSNP Id: rs1567950411
• gnomAD v2: 18-21119978-T-C
• gnomAD v4: 18-23540014-T-C
• MyVariant Identifiers: chr18:g.21119978_21119979delinsCA (hg19)
• PubMed: PMID:25961944

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540014T>C , CM000680.2:g.23540014T>C	GRCh38
NC_000018.9:g.21119978T>C , CM000680.1:g.21119978T>C	GRCh37
NC_000018.8:g.19373976T>C	NCBI36
NG_012795.1:g.51604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-13A>G MANE Select	ENSP00000269228.4:n.2605-13A>G
ENST00000269228.9:c.2605-13A>G	ENSP00000269228.4:n.2605-13A>G
ENST00000540608.5:n.2519-13A>G
ENST00000586718.1:n.396-13A>G
ENST00000591051.1:c.1683-13A>G
NM_000271.4:c.2605-13A>G	NP_000262.2:n.2605-13A>G
XM_005258277.1:c.2656-13A>G	XP_005258334.1:n.2656-13A>G
XM_005258278.3:c.2656-13A>G	XP_005258335.1:n.2656-13A>G
XM_005258279.1:c.2605-13A>G	XP_005258336.1:n.2605-13A>G
XM_006722479.2:c.2656-13A>G	XP_006722542.1:n.2656-13A>G
XM_011526015.1:c.2191-13A>G	XP_011524317.1:n.2191-13A>G
XM_005258278.5:c.2656-13A>G	XP_005258335.1:n.2656-13A>G
XM_005258279.2:c.2605-13A>G	XP_005258336.1:n.2605-13A>G
XM_006722479.3:c.2656-13A>G	XP_006722542.1:n.2656-13A>G
XM_017025784.1:c.2656-13A>G	XP_016881273.1:n.2656-13A>G
XM_017025785.1:c.2656-13A>G	XP_016881274.1:n.2656-13A>G
XM_017025786.1:c.2605-13A>G	XP_016881275.1:n.2605-13A>G
XM_017025787.1:c.2605-13A>G	XP_016881276.1:n.2605-13A>G
NM_000271.5:c.2605-13A>G MANE Select	NP_000262.2:n.2605-13A>G