Canonical Allele Identifier: CA401792682

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539837-T-C
• MyVariant Identifiers: chr18:g.21119801T>C (hg19) ; chr18:g.23539837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539837T>C , CM000680.2:g.23539837T>C	GRCh38
NC_000018.9:g.21119801T>C , CM000680.1:g.21119801T>C	GRCh37
NC_000018.8:g.19373799T>C	NCBI36
NG_012795.1:g.51781A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2769A>G MANE Select	ENSP00000269228.4:p.Ile923Met
ENST00000269228.9:c.2769A>G	ENSP00000269228.4:p.Ile923Met
ENST00000540608.5:n.2683A>G
ENST00000586718.1:n.560A>G
ENST00000591051.1:c.1847A>G
ENST00000591075.1:n.62A>G
NM_000271.4:c.2769A>G	NP_000262.2:p.Ile923Met
XM_005258277.1:c.2820A>G	XP_005258334.1:p.Ile940Met
XM_005258278.3:c.2820A>G	XP_005258335.1:p.Ile940Met
XM_005258279.1:c.2769A>G	XP_005258336.1:p.Ile923Met
XM_006722479.2:c.2820A>G	XP_006722542.1:p.Ile940Met
XM_011526015.1:c.2355A>G	XP_011524317.1:p.Ile785Met
XM_005258278.5:c.2820A>G	XP_005258335.1:p.Ile940Met
XM_005258279.2:c.2769A>G	XP_005258336.1:p.Ile923Met
XM_006722479.3:c.2820A>G	XP_006722542.1:p.Ile940Met
XM_017025784.1:c.2820A>G	XP_016881273.1:p.Ile940Met
XM_017025785.1:c.2820A>G	XP_016881274.1:p.Ile940Met
XM_017025786.1:c.2769A>G	XP_016881275.1:p.Ile923Met
XM_017025787.1:c.2769A>G	XP_016881276.1:p.Ile923Met
NM_000271.5:c.2769A>G MANE Select	NP_000262.2:p.Ile923Met