Canonical Allele Identifier: CA8913658

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2180387
• ClinVar RCV Id: RCV002602793
• dbSNP Id: rs777635692
• ExAC: 18:21140342 A / G
• gnomAD v2: 18-21140342-A-G
• gnomAD v4: 18-23560378-A-G
• MyVariant Identifiers: chr18:g.21140342A>G (hg19) ; chr18:g.23560378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560378A>G , CM000680.2:g.23560378A>G	GRCh38
NC_000018.9:g.21140342A>G , CM000680.1:g.21140342A>G	GRCh37
NC_000018.8:g.19394340A>G	NCBI36
NG_012795.1:g.31240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.734T>C MANE Select	ENSP00000269228.4:p.Ile245Thr
ENST00000269228.9:c.734T>C	ENSP00000269228.4:p.Ile245Thr
ENST00000540608.5:n.648T>C
NM_000271.4:c.734T>C	NP_000262.2:p.Ile245Thr
XM_005258277.1:c.734T>C	XP_005258334.1:p.Ile245Thr
XM_005258278.3:c.734T>C	XP_005258335.1:p.Ile245Thr
XM_005258279.1:c.734T>C	XP_005258336.1:p.Ile245Thr
XM_006722479.2:c.734T>C	XP_006722542.1:p.Ile245Thr
XM_011526015.1:c.269T>C	XP_011524317.1:p.Ile90Thr
XM_005258278.5:c.734T>C	XP_005258335.1:p.Ile245Thr
XM_005258279.2:c.734T>C	XP_005258336.1:p.Ile245Thr
XM_006722479.3:c.734T>C	XP_006722542.1:p.Ile245Thr
XM_017025784.1:c.734T>C	XP_016881273.1:p.Ile245Thr
XM_017025785.1:c.734T>C	XP_016881274.1:p.Ile245Thr
XM_017025786.1:c.734T>C	XP_016881275.1:p.Ile245Thr
XM_017025787.1:c.734T>C	XP_016881276.1:p.Ile245Thr
NM_000271.5:c.734T>C MANE Select	NP_000262.2:p.Ile245Thr