Canonical Allele Identifier: CA2641271627

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2849332
• ClinVar RCV Id: RCV003605249
• gnomAD v4: 18-23538604-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538609_23538610dup , CM000680.2:g.23538609_23538610dup	GRCh38
NC_000018.9:g.21118573_21118574dup , CM000680.1:g.21118573_21118574dup	GRCh37
NC_000018.8:g.19372571_19372572dup	NCBI36
NG_012795.1:g.53012_53013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2977_2978dup MANE Select	ENSP00000269228.4:p.Asp994GlufsTer4
ENST00000269228.9:c.2977_2978dup	ENSP00000269228.4:p.Asp994GlufsTer4
ENST00000591051.1:c.2055_2056dup
ENST00000591075.1:n.610_611dup
ENST00000591955.1:n.320_321dup
NM_000271.4:c.2977_2978dup	NP_000262.2:p.Asp994GlufsTer4
XM_005258277.1:c.3028_3029dup	XP_005258334.1:p.Asp1011GlufsTer4
XM_005258278.3:c.3028_3029dup	XP_005258335.1:p.Asp1011GlufsTer4
XM_005258279.1:c.2977_2978dup	XP_005258336.1:p.Asp994GlufsTer4
XM_006722479.2:c.3028_3029dup	XP_006722542.1:p.Asp1011GlufsTer4
XM_011526015.1:c.2563_2564dup	XP_011524317.1:p.Asp856GlufsTer4
XM_005258278.5:c.3028_3029dup	XP_005258335.1:p.Asp1011GlufsTer4
XM_005258279.2:c.2977_2978dup	XP_005258336.1:p.Asp994GlufsTer4
XM_006722479.3:c.3028_3029dup	XP_006722542.1:p.Asp1011GlufsTer4
XM_017025784.1:c.3028_3029dup	XP_016881273.1:p.Asp1011GlufsTer4
XM_017025785.1:c.3028_3029dup	XP_016881274.1:p.Asp1011GlufsTer4
XM_017025786.1:c.2977_2978dup	XP_016881275.1:p.Asp994GlufsTer4
XM_017025787.1:c.2977_2978dup	XP_016881276.1:p.Asp994GlufsTer4
NM_000271.5:c.2977_2978dup MANE Select	NP_000262.2:p.Asp994GlufsTer4