Canonical Allele Identifier: CA401771473

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1512947
• ClinVar RCV Id: RCV002023281
• dbSNP Id: rs2145400163
• MyVariant Identifiers: chr18:g.21124411C>G (hg19) ; chr18:g.23544447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544447C>G , CM000680.2:g.23544447C>G	GRCh38
NC_000018.9:g.21124411C>G , CM000680.1:g.21124411C>G	GRCh37
NC_000018.8:g.19378409C>G	NCBI36
NG_012795.1:g.47171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2027G>C MANE Select	ENSP00000269228.4:p.Ser676Thr
ENST00000269228.9:c.2027G>C	ENSP00000269228.4:p.Ser676Thr
ENST00000540608.5:n.1941G>C
ENST00000591051.1:c.1105G>C
NM_000271.4:c.2027G>C	NP_000262.2:p.Ser676Thr
XM_005258277.1:c.2078G>C	XP_005258334.1:p.Ser693Thr
XM_005258278.3:c.2078G>C	XP_005258335.1:p.Ser693Thr
XM_005258279.1:c.2027G>C	XP_005258336.1:p.Ser676Thr
XM_006722479.2:c.2078G>C	XP_006722542.1:p.Ser693Thr
XM_011526015.1:c.1613G>C	XP_011524317.1:p.Ser538Thr
XM_005258278.5:c.2078G>C	XP_005258335.1:p.Ser693Thr
XM_005258279.2:c.2027G>C	XP_005258336.1:p.Ser676Thr
XM_006722479.3:c.2078G>C	XP_006722542.1:p.Ser693Thr
XM_017025784.1:c.2078G>C	XP_016881273.1:p.Ser693Thr
XM_017025785.1:c.2078G>C	XP_016881274.1:p.Ser693Thr
XM_017025786.1:c.2027G>C	XP_016881275.1:p.Ser676Thr
XM_017025787.1:c.2027G>C	XP_016881276.1:p.Ser676Thr
NM_000271.5:c.2027G>C MANE Select	NP_000262.2:p.Ser676Thr