Canonical Allele Identifier: CA341660

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21124945C>C (hg19) ; chr18:g.23544981C>C (hg38)
• PubMed: PMID:20301473

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544981C= , CM000680.2:g.23544981C=	GRCh38
NC_000018.9:g.21124945C= , CM000680.1:g.21124945C=	GRCh37
NC_000018.8:g.19378943C=	NCBI36
NG_012795.1:g.46637G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1926G= MANE Select	ENSP00000269228.4:p.Met642=
ENST00000269228.9:c.1926G=	ENSP00000269228.4:p.Met642=
ENST00000540608.5:n.1840G=
ENST00000591051.1:c.1004G=
NM_000271.4:c.1926G=	NP_000262.2:p.Met642=
XM_005258277.1:c.1977G=	XP_005258334.1:p.Met659=
XM_005258278.3:c.1977G=	XP_005258335.1:p.Met659=
XM_005258279.1:c.1926G=	XP_005258336.1:p.Met642=
XM_006722479.2:c.1977G=	XP_006722542.1:p.Met659=
XM_011526015.1:c.1512G=	XP_011524317.1:p.Met504=
XM_005258278.5:c.1977G=	XP_005258335.1:p.Met659=
XM_005258279.2:c.1926G=	XP_005258336.1:p.Met642=
XM_006722479.3:c.1977G=	XP_006722542.1:p.Met659=
XM_017025784.1:c.1977G=	XP_016881273.1:p.Met659=
XM_017025785.1:c.1977G=	XP_016881274.1:p.Met659=
XM_017025786.1:c.1926G=	XP_016881275.1:p.Met642=
XM_017025787.1:c.1926G=	XP_016881276.1:p.Met642=
NM_000271.5:c.1926G= MANE Select	NP_000262.2:p.Met642=