Canonical Allele Identifier: CA401785396
Gene: NPC1 HGNC NCBI

Linked Data

dbSNP Id: rs1448273242

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23568921T>C , CM000680.2:g.23568921T>C GRCh38
NC_000018.9:g.21148885T>C , CM000680.1:g.21148885T>C GRCh37
NC_000018.8:g.19402883T>C NCBI36
NG_012795.1:g.22697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.365A>G MANE Select ENSP00000269228.4:p.Asn122Ser
ENST00000269228.9:c.365A>G ENSP00000269228.4:p.Asn122Ser
ENST00000540608.5:n.279A>G
NM_000271.4:c.365A>G NP_000262.2:p.Asn122Ser
XM_005258277.1:c.365A>G XP_005258334.1:p.Asn122Ser
XM_005258278.3:c.365A>G XP_005258335.1:p.Asn122Ser
XM_005258279.1:c.365A>G XP_005258336.1:p.Asn122Ser
XM_006722479.2:c.365A>G XP_006722542.1:p.Asn122Ser
XM_011526015.1:c.-101A>G XP_011524317.1:n.-101A>G
XM_005258278.5:c.365A>G XP_005258335.1:p.Asn122Ser
XM_005258279.2:c.365A>G XP_005258336.1:p.Asn122Ser
XM_006722479.3:c.365A>G XP_006722542.1:p.Asn122Ser
XM_017025784.1:c.365A>G XP_016881273.1:p.Asn122Ser
XM_017025785.1:c.365A>G XP_016881274.1:p.Asn122Ser
XM_017025786.1:c.365A>G XP_016881275.1:p.Asn122Ser
XM_017025787.1:c.365A>G XP_016881276.1:p.Asn122Ser
NM_000271.5:c.365A>G MANE Select NP_000262.2:p.Asn122Ser