Canonical Allele Identifier: CA8913697

Gene: NPC1

Linked Data

• ClinVar Variation Id: 992160
• ClinVar RCV Id: RCV001280492 ; RCV004526102
• dbSNP Id: rs767452406
• ExAC: 18:21141340 G / A
• gnomAD v2: 18-21141340-G-A
• gnomAD v4: 18-23561376-G-A
• MyVariant Identifiers: chr18:g.21141340G>A (hg19) ; chr18:g.23561376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561376G>A , CM000680.2:g.23561376G>A	GRCh38
NC_000018.9:g.21141340G>A , CM000680.1:g.21141340G>A	GRCh37
NC_000018.8:g.19395338G>A	NCBI36
NG_012795.1:g.30242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.615C>T MANE Select	ENSP00000269228.4:p.Ile205=
ENST00000269228.9:c.615C>T	ENSP00000269228.4:p.Ile205=
ENST00000540608.5:n.529C>T
NM_000271.4:c.615C>T	NP_000262.2:p.Ile205=
XM_005258277.1:c.615C>T	XP_005258334.1:p.Ile205=
XM_005258278.3:c.615C>T	XP_005258335.1:p.Ile205=
XM_005258279.1:c.615C>T	XP_005258336.1:p.Ile205=
XM_006722479.2:c.615C>T	XP_006722542.1:p.Ile205=
XM_011526015.1:c.150C>T	XP_011524317.1:p.Ile50=
XM_005258278.5:c.615C>T	XP_005258335.1:p.Ile205=
XM_005258279.2:c.615C>T	XP_005258336.1:p.Ile205=
XM_006722479.3:c.615C>T	XP_006722542.1:p.Ile205=
XM_017025784.1:c.615C>T	XP_016881273.1:p.Ile205=
XM_017025785.1:c.615C>T	XP_016881274.1:p.Ile205=
XM_017025786.1:c.615C>T	XP_016881275.1:p.Ile205=
XM_017025787.1:c.615C>T	XP_016881276.1:p.Ile205=
NM_000271.5:c.615C>T MANE Select	NP_000262.2:p.Ile205=