Canonical Allele Identifier: CA2590759952

Gene: NPC1

Linked Data

• dbSNP Id: rs2145375103
• gnomAD v3: 18-23540123-C-G
• gnomAD v4: 18-23540123-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540123C>G , CM000680.2:g.23540123C>G	GRCh38
NC_000018.9:g.21120087C>G , CM000680.1:g.21120087C>G	GRCh37
NC_000018.8:g.19374085C>G	NCBI36
NG_012795.1:g.51495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-122G>C MANE Select	ENSP00000269228.4:n.2605-122G>C
ENST00000269228.9:c.2605-122G>C	ENSP00000269228.4:n.2605-122G>C
ENST00000540608.5:n.2519-122G>C
ENST00000586718.1:n.396-122G>C
ENST00000591051.1:c.1683-122G>C
NM_000271.4:c.2605-122G>C	NP_000262.2:n.2605-122G>C
XM_005258277.1:c.2656-122G>C	XP_005258334.1:n.2656-122G>C
XM_005258278.3:c.2656-122G>C	XP_005258335.1:n.2656-122G>C
XM_005258279.1:c.2605-122G>C	XP_005258336.1:n.2605-122G>C
XM_006722479.2:c.2656-122G>C	XP_006722542.1:n.2656-122G>C
XM_011526015.1:c.2191-122G>C	XP_011524317.1:n.2191-122G>C
XM_005258278.5:c.2656-122G>C	XP_005258335.1:n.2656-122G>C
XM_005258279.2:c.2605-122G>C	XP_005258336.1:n.2605-122G>C
XM_006722479.3:c.2656-122G>C	XP_006722542.1:n.2656-122G>C
XM_017025784.1:c.2656-122G>C	XP_016881273.1:n.2656-122G>C
XM_017025785.1:c.2656-122G>C	XP_016881274.1:n.2656-122G>C
XM_017025786.1:c.2605-122G>C	XP_016881275.1:n.2605-122G>C
XM_017025787.1:c.2605-122G>C	XP_016881276.1:n.2605-122G>C
NM_000271.5:c.2605-122G>C MANE Select	NP_000262.2:n.2605-122G>C