Canonical Allele Identifier: CA401779223

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556615T>C , CM000680.2:g.23556615T>C	GRCh38
NC_000018.9:g.21136579T>C , CM000680.1:g.21136579T>C	GRCh37
NC_000018.8:g.19390577T>C	NCBI36
NG_012795.1:g.35003A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.956-2A>G MANE Select	NP_000262.2:n.956-2A>G
ENST00000269228.10:c.956-2A>G MANE Select	ENSP00000269228.4:n.956-2A>G
NM_000271.4:c.956-2A>G	NP_000262.2:n.956-2A>G
ENST00000269228.9:c.956-2A>G	ENSP00000269228.4:n.956-2A>G
ENST00000540608.5:n.870-2A>G
ENST00000591051.1:c.236A>G
XM_005258277.1:c.1005A>G	XP_005258334.1:p.Pro335=
XM_005258278.3:c.1005A>G	XP_005258335.1:p.Pro335=
XM_005258278.5:c.1005A>G	XP_005258335.1:p.Pro335=
XM_005258279.1:c.956-2A>G	XP_005258336.1:n.956-2A>G
XM_005258279.2:c.956-2A>G	XP_005258336.1:n.956-2A>G
XM_006722479.2:c.1005A>G	XP_006722542.1:p.Pro335=
XM_006722479.3:c.1005A>G	XP_006722542.1:p.Pro335=
XM_011526015.1:c.540A>G	XP_011524317.1:p.Pro180=
XM_017025784.1:c.1005A>G	XP_016881273.1:p.Pro335=
XM_017025785.1:c.1005A>G	XP_016881274.1:p.Pro335=
XM_017025786.1:c.956-2A>G	XP_016881275.1:n.956-2A>G
XM_017025787.1:c.956-2A>G	XP_016881276.1:n.956-2A>G