Canonical Allele Identifier: CA401790342

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2110091
• ClinVar RCV Id: RCV003042189
• MyVariant Identifiers: chr18:g.21112182C>A (hg19) ; chr18:g.23532218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532218C>A , CM000680.2:g.23532218C>A	GRCh38
NC_000018.9:g.21112182C>A , CM000680.1:g.21112182C>A	GRCh37
NC_000018.8:g.19366180C>A	NCBI36
NG_012795.1:g.59400G>T
NG_033119.1:g.33749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3821G>T MANE Select	ENSP00000269228.4:p.Arg1274Leu
ENST00000269228.9:c.3821G>T	ENSP00000269228.4:p.Arg1274Leu
ENST00000586150.5:c.509+1137G>T
ENST00000588867.1:n.1504G>T
ENST00000590723.5:c.163+1137G>T	ENSP00000464755.1:n.163+1137G>T
ENST00000591051.1:c.2899G>T
ENST00000591107.6:c.431+1137G>T
ENST00000593280.2:c.86+1137G>T
NM_000271.4:c.3821G>T	NP_000262.2:p.Arg1274Leu
XM_005258277.1:c.3805+1137G>T	XP_005258334.1:n.3805+1137G>T
XM_005258278.3:c.3872G>T	XP_005258335.1:p.Arg1291Leu
XM_005258279.1:c.3754+1137G>T	XP_005258336.1:n.3754+1137G>T
XM_006722479.2:c.3805+1137G>T	XP_006722542.1:n.3805+1137G>T
XM_011526015.1:c.3340+1137G>T	XP_011524317.1:n.3340+1137G>T
XM_005258278.5:c.3872G>T	XP_005258335.1:p.Arg1291Leu
XM_005258279.2:c.3754+1137G>T	XP_005258336.1:n.3754+1137G>T
XM_006722479.3:c.3805+1137G>T	XP_006722542.1:n.3805+1137G>T
XM_017025784.1:c.3805+1137G>T	XP_016881273.1:n.3805+1137G>T
XM_017025785.1:c.3805+1137G>T	XP_016881274.1:n.3805+1137G>T
XM_017025786.1:c.3754+1137G>T	XP_016881275.1:n.3754+1137G>T
XM_017025787.1:c.3754+1137G>T	XP_016881276.1:n.3754+1137G>T
NM_000271.5:c.3821G>T MANE Select	NP_000262.2:p.Arg1274Leu