Canonical Allele Identifier: CA252497
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2959
ClinVar RCV Id: RCV000003093
dbSNP Id: rs28942105

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23535479T>C , CM000680.2:g.23535479T>C GRCh38
NC_000018.9:g.21115443T>C , CM000680.1:g.21115443T>C GRCh37
NC_000018.8:g.19369441T>C NCBI36
NG_012795.1:g.56139A>G

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.3467A>G VV NP_000262.2:p.Asn1156Ser
XM_005258277.1:c.3518A>G XP_005258334.1:p.Asn1173Ser
XM_005258278.3:c.3518A>G XP_005258335.1:p.Asn1173Ser
XM_005258279.1:c.3467A>G XP_005258336.1:p.Asn1156Ser
XM_006722479.2:c.3518A>G XP_006722542.1:p.Asn1173Ser
XM_011526015.1:c.3053A>G XP_011524317.1:p.Asn1018Ser
XM_005258278.5:c.3518A>G XP_005258335.1:p.Asn1173Ser
XM_005258279.2:c.3467A>G XP_005258336.1:p.Asn1156Ser
XM_006722479.3:c.3518A>G XP_006722542.1:p.Asn1173Ser
XM_017025784.1:c.3518A>G XP_016881273.1:p.Asn1173Ser
XM_017025785.1:c.3518A>G XP_016881274.1:p.Asn1173Ser
XM_017025786.1:c.3467A>G XP_016881275.1:p.Asn1156Ser
XM_017025787.1:c.3467A>G XP_016881276.1:p.Asn1156Ser
NM_000271.5:c.3467A>G VV MANE Preferred NP_000262.2:p.Asn1156Ser
ENST00000269228.9:c.3467A>G ENSP00000269228.4:p.Asn1156Ser
ENST00000586150.5:n.222A>G
ENST00000588867.1:n.222A>G
ENST00000591051.1:n.2545A>G
ENST00000591107.6:n.144A>G