Canonical Allele Identifier: CA2576470554

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539745-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539745T>G , CM000680.2:g.23539745T>G	GRCh38
NC_000018.9:g.21119709T>G , CM000680.1:g.21119709T>G	GRCh37
NC_000018.8:g.19373707T>G	NCBI36
NG_012795.1:g.51873A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2795+66A>C MANE Select	ENSP00000269228.4:n.2795+66A>C
ENST00000269228.9:c.2795+66A>C	ENSP00000269228.4:n.2795+66A>C
ENST00000540608.5:n.2775A>C
ENST00000591051.1:c.1873+66A>C
ENST00000591075.1:n.154A>C
NM_000271.4:c.2795+66A>C	NP_000262.2:n.2795+66A>C
XM_005258277.1:c.2846+66A>C	XP_005258334.1:n.2846+66A>C
XM_005258278.3:c.2846+66A>C	XP_005258335.1:n.2846+66A>C
XM_005258279.1:c.2795+66A>C	XP_005258336.1:n.2795+66A>C
XM_006722479.2:c.2846+66A>C	XP_006722542.1:n.2846+66A>C
XM_011526015.1:c.2381+66A>C	XP_011524317.1:n.2381+66A>C
XM_005258278.5:c.2846+66A>C	XP_005258335.1:n.2846+66A>C
XM_005258279.2:c.2795+66A>C	XP_005258336.1:n.2795+66A>C
XM_006722479.3:c.2846+66A>C	XP_006722542.1:n.2846+66A>C
XM_017025784.1:c.2846+66A>C	XP_016881273.1:n.2846+66A>C
XM_017025785.1:c.2846+66A>C	XP_016881274.1:n.2846+66A>C
XM_017025786.1:c.2795+66A>C	XP_016881275.1:n.2795+66A>C
XM_017025787.1:c.2795+66A>C	XP_016881276.1:n.2795+66A>C
NM_000271.5:c.2795+66A>C MANE Select	NP_000262.2:n.2795+66A>C