Canonical Allele Identifier: CA8913084

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23541081A>G , CM000680.2:g.23541081A>G	GRCh38
NC_000018.9:g.21121045A>G , CM000680.1:g.21121045A>G	GRCh37
NC_000018.8:g.19375043A>G	NCBI36
NG_012795.1:g.50537T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2501T>C MANE Select	NP_000262.2:p.Met834Thr
ENST00000269228.10:c.2501T>C MANE Select	ENSP00000269228.4:p.Met834Thr
NM_000271.4:c.2501T>C	NP_000262.2:p.Met834Thr
ENST00000269228.9:c.2501T>C	ENSP00000269228.4:p.Met834Thr
ENST00000540608.5:n.2415T>C
ENST00000586718.1:n.292T>C
ENST00000591051.1:c.1579T>C
XM_005258277.1:c.2552T>C	XP_005258334.1:p.Met851Thr
XM_005258278.3:c.2552T>C	XP_005258335.1:p.Met851Thr
XM_005258278.5:c.2552T>C	XP_005258335.1:p.Met851Thr
XM_005258279.1:c.2501T>C	XP_005258336.1:p.Met834Thr
XM_005258279.2:c.2501T>C	XP_005258336.1:p.Met834Thr
XM_006722479.2:c.2552T>C	XP_006722542.1:p.Met851Thr
XM_006722479.3:c.2552T>C	XP_006722542.1:p.Met851Thr
XM_011526015.1:c.2087T>C	XP_011524317.1:p.Met696Thr
XM_017025784.1:c.2552T>C	XP_016881273.1:p.Met851Thr
XM_017025785.1:c.2552T>C	XP_016881274.1:p.Met851Thr
XM_017025786.1:c.2501T>C	XP_016881275.1:p.Met834Thr
XM_017025787.1:c.2501T>C	XP_016881276.1:p.Met834Thr