Canonical Allele Identifier: CA657409839

Gene: NPC1

Linked Data

• COSMIC: COSN25029082

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532187T>C , CM000680.2:g.23532187T>C	GRCh38
NC_000018.9:g.21112151T>C , CM000680.1:g.21112151T>C	GRCh37
NC_000018.8:g.19366149T>C	NCBI36
NG_012795.1:g.59431A>G
NG_033119.1:g.33718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.*15A>G MANE Select	ENSP00000269228.4:n.*15A>G
ENST00000269228.9:c.*15A>G	ENSP00000269228.4:n.*15A>G
ENST00000586150.5:c.509+1168A>G
ENST00000588867.1:n.1535A>G
ENST00000590723.5:c.163+1168A>G	ENSP00000464755.1:n.163+1168A>G
ENST00000591051.1:c.2930A>G
ENST00000591107.6:c.431+1168A>G
ENST00000593280.2:c.86+1168A>G
NM_000271.4:c.*15A>G	NP_000262.2:n.*15A>G
XM_005258277.1:c.3805+1168A>G	XP_005258334.1:n.3805+1168A>G
XM_005258278.3:c.*15A>G	XP_005258335.1:n.*15A>G
XM_005258279.1:c.3754+1168A>G	XP_005258336.1:n.3754+1168A>G
XM_006722479.2:c.3805+1168A>G	XP_006722542.1:n.3805+1168A>G
XM_011526015.1:c.3340+1168A>G	XP_011524317.1:n.3340+1168A>G
XM_005258278.5:c.*15A>G	XP_005258335.1:n.*15A>G
XM_005258279.2:c.3754+1168A>G	XP_005258336.1:n.3754+1168A>G
XM_006722479.3:c.3805+1168A>G	XP_006722542.1:n.3805+1168A>G
XM_017025784.1:c.3805+1168A>G	XP_016881273.1:n.3805+1168A>G
XM_017025785.1:c.3805+1168A>G	XP_016881274.1:n.3805+1168A>G
XM_017025786.1:c.3754+1168A>G	XP_016881275.1:n.3754+1168A>G
XM_017025787.1:c.3754+1168A>G	XP_016881276.1:n.3754+1168A>G
NM_000271.5:c.*15A>G MANE Select	NP_000262.2:n.*15A>G