Canonical Allele Identifier: CA401777212
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705794
ClinVar RCV Id: RCV002284104

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23556283A>C , CM000680.2:g.23556283A>C GRCh38
NC_000018.9:g.21136247A>C , CM000680.1:g.21136247A>C GRCh37
NC_000018.8:g.19390245A>C NCBI36
NG_012795.1:g.35335T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1286T>G MANE Select ENSP00000269228.4:p.Val429Gly
ENST00000269228.9:c.1286T>G ENSP00000269228.4:p.Val429Gly
ENST00000540608.5:n.1200T>G
ENST00000591051.1:c.568T>G
NM_000271.4:c.1286T>G NP_000262.2:p.Val429Gly
XM_005258277.1:c.1337T>G XP_005258334.1:p.Val446Gly
XM_005258278.3:c.1337T>G XP_005258335.1:p.Val446Gly
XM_005258279.1:c.1286T>G XP_005258336.1:p.Val429Gly
XM_006722479.2:c.1337T>G XP_006722542.1:p.Val446Gly
XM_011526015.1:c.872T>G XP_011524317.1:p.Val291Gly
XM_005258278.5:c.1337T>G XP_005258335.1:p.Val446Gly
XM_005258279.2:c.1286T>G XP_005258336.1:p.Val429Gly
XM_006722479.3:c.1337T>G XP_006722542.1:p.Val446Gly
XM_017025784.1:c.1337T>G XP_016881273.1:p.Val446Gly
XM_017025785.1:c.1337T>G XP_016881274.1:p.Val446Gly
XM_017025786.1:c.1286T>G XP_016881275.1:p.Val429Gly
XM_017025787.1:c.1286T>G XP_016881276.1:p.Val429Gly
NM_000271.5:c.1286T>G MANE Select NP_000262.2:p.Val429Gly