Canonical Allele Identifier: CA503521672

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1556070
• ClinVar RCV Id: RCV002185521
• dbSNP Id: rs2145350308
• MyVariant Identifiers: chr18:g.21115487A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535523A>C , CM000680.2:g.23535523A>C	GRCh38
NC_000018.9:g.21115487A>C , CM000680.1:g.21115487A>C	GRCh37
NC_000018.8:g.19369485A>C	NCBI36
NG_012795.1:g.56095T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3423T>G MANE Select	ENSP00000269228.4:p.Val1141=
ENST00000269228.9:c.3423T>G	ENSP00000269228.4:p.Val1141=
ENST00000586150.5:c.178T>G
ENST00000588867.1:n.178T>G
ENST00000591051.1:c.2501T>G
ENST00000591107.6:c.100T>G
NM_000271.4:c.3423T>G	NP_000262.2:p.Val1141=
XM_005258277.1:c.3474T>G	XP_005258334.1:p.Val1158=
XM_005258278.3:c.3474T>G	XP_005258335.1:p.Val1158=
XM_005258279.1:c.3423T>G	XP_005258336.1:p.Val1141=
XM_006722479.2:c.3474T>G	XP_006722542.1:p.Val1158=
XM_011526015.1:c.3009T>G	XP_011524317.1:p.Val1003=
XM_005258278.5:c.3474T>G	XP_005258335.1:p.Val1158=
XM_005258279.2:c.3423T>G	XP_005258336.1:p.Val1141=
XM_006722479.3:c.3474T>G	XP_006722542.1:p.Val1158=
XM_017025784.1:c.3474T>G	XP_016881273.1:p.Val1158=
XM_017025785.1:c.3474T>G	XP_016881274.1:p.Val1158=
XM_017025786.1:c.3423T>G	XP_016881275.1:p.Val1141=
XM_017025787.1:c.3423T>G	XP_016881276.1:p.Val1141=
NM_000271.5:c.3423T>G MANE Select	NP_000262.2:p.Val1141=