Canonical Allele Identifier: CA297074601

Gene: NPC1

Linked Data

• dbSNP Id: rs35341073
• MyVariant Identifiers: chr18:g.21140243_21140244insC (hg19) ; chr18:g.23560279_23560280insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560281dup , CM000680.2:g.23560281dup	GRCh38
NC_000018.9:g.21140245dup , CM000680.1:g.21140245dup	GRCh37
NC_000018.8:g.19394243dup	NCBI36
NG_012795.1:g.31338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.832dup MANE Select	ENSP00000269228.4:p.Ala278GlyfsTer30
ENST00000269228.9:c.832dup	ENSP00000269228.4:p.Ala278GlyfsTer30
ENST00000540608.5:n.746dup
ENST00000591051.1:c.63dup
NM_000271.4:c.832dup	NP_000262.2:p.Ala278GlyfsTer30
XM_005258277.1:c.832dup	XP_005258334.1:p.Ala278GlyfsTer30
XM_005258278.3:c.832dup	XP_005258335.1:p.Ala278GlyfsTer30
XM_005258279.1:c.832dup	XP_005258336.1:p.Ala278GlyfsTer30
XM_006722479.2:c.832dup	XP_006722542.1:p.Ala278GlyfsTer30
XM_011526015.1:c.367dup	XP_011524317.1:p.Ala123GlyfsTer30
XM_005258278.5:c.832dup	XP_005258335.1:p.Ala278GlyfsTer30
XM_005258279.2:c.832dup	XP_005258336.1:p.Ala278GlyfsTer30
XM_006722479.3:c.832dup	XP_006722542.1:p.Ala278GlyfsTer30
XM_017025784.1:c.832dup	XP_016881273.1:p.Ala278GlyfsTer30
XM_017025785.1:c.832dup	XP_016881274.1:p.Ala278GlyfsTer30
XM_017025786.1:c.832dup	XP_016881275.1:p.Ala278GlyfsTer30
XM_017025787.1:c.832dup	XP_016881276.1:p.Ala278GlyfsTer30
NM_000271.5:c.832dup MANE Select	NP_000262.2:p.Ala278GlyfsTer30