Canonical Allele Identifier: CA297067961

Gene: NPC1

Linked Data

• dbSNP Id: rs186779779
• gnomAD v2: 18-21134659-G-A
• gnomAD v3: 18-23554695-G-A
• gnomAD v4: 18-23554695-G-A
• MyVariant Identifiers: chr18:g.21134659G>A (hg19) ; chr18:g.23554695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554695G>A , CM000680.2:g.23554695G>A	GRCh38
NC_000018.9:g.21134659G>A , CM000680.1:g.21134659G>A	GRCh37
NC_000018.8:g.19388657G>A	NCBI36
NG_012795.1:g.36923C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1553+63C>T MANE Select	ENSP00000269228.4:n.1553+63C>T
ENST00000269228.9:c.1553+63C>T	ENSP00000269228.4:n.1553+63C>T
ENST00000540608.5:n.1467+63C>T
ENST00000590301.1:n.228+63C>T
ENST00000591051.1:c.835+63C>T
NM_000271.4:c.1553+63C>T	NP_000262.2:n.1553+63C>T
XM_005258277.1:c.1604+63C>T	XP_005258334.1:n.1604+63C>T
XM_005258278.3:c.1604+63C>T	XP_005258335.1:n.1604+63C>T
XM_005258279.1:c.1553+63C>T	XP_005258336.1:n.1553+63C>T
XM_006722479.2:c.1604+63C>T	XP_006722542.1:n.1604+63C>T
XM_011526015.1:c.1139+63C>T	XP_011524317.1:n.1139+63C>T
XM_005258278.5:c.1604+63C>T	XP_005258335.1:n.1604+63C>T
XM_005258279.2:c.1553+63C>T	XP_005258336.1:n.1553+63C>T
XM_006722479.3:c.1604+63C>T	XP_006722542.1:n.1604+63C>T
XM_017025784.1:c.1604+63C>T	XP_016881273.1:n.1604+63C>T
XM_017025785.1:c.1604+63C>T	XP_016881274.1:n.1604+63C>T
XM_017025786.1:c.1553+63C>T	XP_016881275.1:n.1553+63C>T
XM_017025787.1:c.1553+63C>T	XP_016881276.1:n.1553+63C>T
NM_000271.5:c.1553+63C>T MANE Select	NP_000262.2:n.1553+63C>T