Canonical Allele Identifier: CA8913397

Gene: NPC1

Linked Data

• dbSNP Id: rs778002425
• ExAC: 18:21128065 G / C
• gnomAD v2: 18-21128065-G-C
• gnomAD v4: 18-23548101-G-C
• MyVariant Identifiers: chr18:g.21128065G>C (hg19) ; chr18:g.23548101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23548101G>C , CM000680.2:g.23548101G>C	GRCh38
NC_000018.9:g.21128065G>C , CM000680.1:g.21128065G>C	GRCh37
NC_000018.8:g.19382063G>C	NCBI36
NG_012795.1:g.43517C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1662C>G MANE Select	ENSP00000269228.4:p.Asn554Lys
ENST00000269228.9:c.1662C>G	ENSP00000269228.4:p.Asn554Lys
ENST00000540608.5:n.1576C>G
ENST00000591051.1:c.836-2952C>G
NM_000271.4:c.1662C>G	NP_000262.2:p.Asn554Lys
XM_005258277.1:c.1713C>G	XP_005258334.1:p.Asn571Lys
XM_005258278.3:c.1713C>G	XP_005258335.1:p.Asn571Lys
XM_005258279.1:c.1662C>G	XP_005258336.1:p.Asn554Lys
XM_006722479.2:c.1713C>G	XP_006722542.1:p.Asn571Lys
XM_011526015.1:c.1248C>G	XP_011524317.1:p.Asn416Lys
XM_005258278.5:c.1713C>G	XP_005258335.1:p.Asn571Lys
XM_005258279.2:c.1662C>G	XP_005258336.1:p.Asn554Lys
XM_006722479.3:c.1713C>G	XP_006722542.1:p.Asn571Lys
XM_017025784.1:c.1713C>G	XP_016881273.1:p.Asn571Lys
XM_017025785.1:c.1713C>G	XP_016881274.1:p.Asn571Lys
XM_017025786.1:c.1662C>G	XP_016881275.1:p.Asn554Lys
XM_017025787.1:c.1662C>G	XP_016881276.1:p.Asn554Lys
NM_000271.5:c.1662C>G MANE Select	NP_000262.2:p.Asn554Lys