Canonical Allele Identifier: CA401792730

Gene: NPC1

Linked Data

• dbSNP Id: rs1270245521
• gnomAD v2: 18-21119822-A-C
• gnomAD v4: 18-23539858-A-C
• MyVariant Identifiers: chr18:g.21119822A>C (hg19) ; chr18:g.23539858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539858A>C , CM000680.2:g.23539858A>C	GRCh38
NC_000018.9:g.21119822A>C , CM000680.1:g.21119822A>C	GRCh37
NC_000018.8:g.19373820A>C	NCBI36
NG_012795.1:g.51760T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2748T>G MANE Select	ENSP00000269228.4:p.Asn916Lys
ENST00000269228.9:c.2748T>G	ENSP00000269228.4:p.Asn916Lys
ENST00000540608.5:n.2662T>G
ENST00000586718.1:n.539T>G
ENST00000591051.1:c.1826T>G
ENST00000591075.1:n.41T>G
NM_000271.4:c.2748T>G	NP_000262.2:p.Asn916Lys
XM_005258277.1:c.2799T>G	XP_005258334.1:p.Asn933Lys
XM_005258278.3:c.2799T>G	XP_005258335.1:p.Asn933Lys
XM_005258279.1:c.2748T>G	XP_005258336.1:p.Asn916Lys
XM_006722479.2:c.2799T>G	XP_006722542.1:p.Asn933Lys
XM_011526015.1:c.2334T>G	XP_011524317.1:p.Asn778Lys
XM_005258278.5:c.2799T>G	XP_005258335.1:p.Asn933Lys
XM_005258279.2:c.2748T>G	XP_005258336.1:p.Asn916Lys
XM_006722479.3:c.2799T>G	XP_006722542.1:p.Asn933Lys
XM_017025784.1:c.2799T>G	XP_016881273.1:p.Asn933Lys
XM_017025785.1:c.2799T>G	XP_016881274.1:p.Asn933Lys
XM_017025786.1:c.2748T>G	XP_016881275.1:p.Asn916Lys
XM_017025787.1:c.2748T>G	XP_016881276.1:p.Asn916Lys
NM_000271.5:c.2748T>G MANE Select	NP_000262.2:p.Asn916Lys