Canonical Allele Identifier: CA8912900

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538608C>G , CM000680.2:g.23538608C>G	GRCh38
NC_000018.9:g.21118572C>G , CM000680.1:g.21118572C>G	GRCh37
NC_000018.8:g.19372570C>G	NCBI36
NG_012795.1:g.53010G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2975G>C MANE Select	NP_000262.2:p.Gly992Ala
ENST00000269228.10:c.2975G>C MANE Select	ENSP00000269228.4:p.Gly992Ala
NM_000271.4:c.2975G>C	NP_000262.2:p.Gly992Ala
ENST00000269228.9:c.2975G>C	ENSP00000269228.4:p.Gly992Ala
ENST00000591051.1:c.2053G>C
ENST00000591075.1:n.608G>C
ENST00000591955.1:n.318G>C
XM_005258277.1:c.3026G>C	XP_005258334.1:p.Gly1009Ala
XM_005258278.3:c.3026G>C	XP_005258335.1:p.Gly1009Ala
XM_005258278.5:c.3026G>C	XP_005258335.1:p.Gly1009Ala
XM_005258279.1:c.2975G>C	XP_005258336.1:p.Gly992Ala
XM_005258279.2:c.2975G>C	XP_005258336.1:p.Gly992Ala
XM_006722479.2:c.3026G>C	XP_006722542.1:p.Gly1009Ala
XM_006722479.3:c.3026G>C	XP_006722542.1:p.Gly1009Ala
XM_011526015.1:c.2561G>C	XP_011524317.1:p.Gly854Ala
XM_017025784.1:c.3026G>C	XP_016881273.1:p.Gly1009Ala
XM_017025785.1:c.3026G>C	XP_016881274.1:p.Gly1009Ala
XM_017025786.1:c.2975G>C	XP_016881275.1:p.Gly992Ala
XM_017025787.1:c.2975G>C	XP_016881276.1:p.Gly992Ala