Canonical Allele Identifier: CA297068476

Gene: NPC1

Linked Data

• dbSNP Id: rs753646593
• gnomAD v2: 18-21134994-T-C
• gnomAD v3: 18-23555030-T-C
• gnomAD v4: 18-23555030-T-C
• MyVariant Identifiers: chr18:g.21134994T>C (hg19) ; chr18:g.23555030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23555030T>C , CM000680.2:g.23555030T>C	GRCh38
NC_000018.9:g.21134994T>C , CM000680.1:g.21134994T>C	GRCh37
NC_000018.8:g.19388992T>C	NCBI36
NG_012795.1:g.36588A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1327-46A>G MANE Select	ENSP00000269228.4:n.1327-46A>G
ENST00000269228.9:c.1327-46A>G	ENSP00000269228.4:n.1327-46A>G
ENST00000540608.5:n.1241-46A>G
ENST00000591051.1:c.609-46A>G
NM_000271.4:c.1327-46A>G	NP_000262.2:n.1327-46A>G
XM_005258277.1:c.1378-46A>G	XP_005258334.1:n.1378-46A>G
XM_005258278.3:c.1378-46A>G	XP_005258335.1:n.1378-46A>G
XM_005258279.1:c.1327-46A>G	XP_005258336.1:n.1327-46A>G
XM_006722479.2:c.1378-46A>G	XP_006722542.1:n.1378-46A>G
XM_011526015.1:c.913-46A>G	XP_011524317.1:n.913-46A>G
XM_005258278.5:c.1378-46A>G	XP_005258335.1:n.1378-46A>G
XM_005258279.2:c.1327-46A>G	XP_005258336.1:n.1327-46A>G
XM_006722479.3:c.1378-46A>G	XP_006722542.1:n.1378-46A>G
XM_017025784.1:c.1378-46A>G	XP_016881273.1:n.1378-46A>G
XM_017025785.1:c.1378-46A>G	XP_016881274.1:n.1378-46A>G
XM_017025786.1:c.1327-46A>G	XP_016881275.1:n.1327-46A>G
XM_017025787.1:c.1327-46A>G	XP_016881276.1:n.1327-46A>G
NM_000271.5:c.1327-46A>G MANE Select	NP_000262.2:n.1327-46A>G