Canonical Allele Identifier: CA503322810

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21120480G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540516G>A , CM000680.2:g.23540516G>A	GRCh38
NC_000018.9:g.21120480G>A , CM000680.1:g.21120480G>A	GRCh37
NC_000018.8:g.19374478G>A	NCBI36
NG_012795.1:g.51102C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2536C>T MANE Select	ENSP00000269228.4:p.Leu846=
ENST00000269228.9:c.2536C>T	ENSP00000269228.4:p.Leu846=
ENST00000540608.5:n.2450C>T
ENST00000586718.1:n.327C>T
ENST00000591051.1:c.1614C>T
NM_000271.4:c.2536C>T	NP_000262.2:p.Leu846=
XM_005258277.1:c.2587C>T	XP_005258334.1:p.Leu863=
XM_005258278.3:c.2587C>T	XP_005258335.1:p.Leu863=
XM_005258279.1:c.2536C>T	XP_005258336.1:p.Leu846=
XM_006722479.2:c.2587C>T	XP_006722542.1:p.Leu863=
XM_011526015.1:c.2122C>T	XP_011524317.1:p.Leu708=
XM_005258278.5:c.2587C>T	XP_005258335.1:p.Leu863=
XM_005258279.2:c.2536C>T	XP_005258336.1:p.Leu846=
XM_006722479.3:c.2587C>T	XP_006722542.1:p.Leu863=
XM_017025784.1:c.2587C>T	XP_016881273.1:p.Leu863=
XM_017025785.1:c.2587C>T	XP_016881274.1:p.Leu863=
XM_017025786.1:c.2536C>T	XP_016881275.1:p.Leu846=
XM_017025787.1:c.2536C>T	XP_016881276.1:p.Leu846=
NM_000271.5:c.2536C>T MANE Select	NP_000262.2:p.Leu846=