Canonical Allele Identifier: CA1139665978

Gene: NPC1

Linked Data

• ClinVar Variation Id: 974870
• ClinVar RCV Id: RCV001251158
• dbSNP Id: rs2058685029

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539755G>A , CM000680.2:g.23539755G>A	GRCh38
NC_000018.9:g.21119719G>A , CM000680.1:g.21119719G>A	GRCh37
NC_000018.8:g.19373717G>A	NCBI36
NG_012795.1:g.51863C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2795+56C>T MANE Select	ENSP00000269228.4:n.2795+56C>T
ENST00000269228.9:c.2795+56C>T	ENSP00000269228.4:n.2795+56C>T
ENST00000540608.5:n.2765C>T
ENST00000591051.1:c.1873+56C>T
ENST00000591075.1:n.144C>T
NM_000271.4:c.2795+56C>T	NP_000262.2:n.2795+56C>T
XM_005258277.1:c.2846+56C>T	XP_005258334.1:n.2846+56C>T
XM_005258278.3:c.2846+56C>T	XP_005258335.1:n.2846+56C>T
XM_005258279.1:c.2795+56C>T	XP_005258336.1:n.2795+56C>T
XM_006722479.2:c.2846+56C>T	XP_006722542.1:n.2846+56C>T
XM_011526015.1:c.2381+56C>T	XP_011524317.1:n.2381+56C>T
XM_005258278.5:c.2846+56C>T	XP_005258335.1:n.2846+56C>T
XM_005258279.2:c.2795+56C>T	XP_005258336.1:n.2795+56C>T
XM_006722479.3:c.2846+56C>T	XP_006722542.1:n.2846+56C>T
XM_017025784.1:c.2846+56C>T	XP_016881273.1:n.2846+56C>T
XM_017025785.1:c.2846+56C>T	XP_016881274.1:n.2846+56C>T
XM_017025786.1:c.2795+56C>T	XP_016881275.1:n.2795+56C>T
XM_017025787.1:c.2795+56C>T	XP_016881276.1:n.2795+56C>T
NM_000271.5:c.2795+56C>T MANE Select	NP_000262.2:n.2795+56C>T