Canonical Allele Identifier: CA8913508

Gene: NPC1

Linked Data

• dbSNP Id: rs772847092
• ExAC: 18:21136278 T / A
• gnomAD v2: 18-21136278-T-A
• gnomAD v4: 18-23556314-T-A
• MyVariant Identifiers: chr18:g.21136278T>A (hg19) ; chr18:g.23556314T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556314T>A , CM000680.2:g.23556314T>A	GRCh38
NC_000018.9:g.21136278T>A , CM000680.1:g.21136278T>A	GRCh37
NC_000018.8:g.19390276T>A	NCBI36
NG_012795.1:g.35304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1255A>T MANE Select	ENSP00000269228.4:p.Ile419Phe
ENST00000269228.9:c.1255A>T	ENSP00000269228.4:p.Ile419Phe
ENST00000540608.5:n.1169A>T
ENST00000591051.1:c.537A>T
NM_000271.4:c.1255A>T	NP_000262.2:p.Ile419Phe
XM_005258277.1:c.1306A>T	XP_005258334.1:p.Ile436Phe
XM_005258278.3:c.1306A>T	XP_005258335.1:p.Ile436Phe
XM_005258279.1:c.1255A>T	XP_005258336.1:p.Ile419Phe
XM_006722479.2:c.1306A>T	XP_006722542.1:p.Ile436Phe
XM_011526015.1:c.841A>T	XP_011524317.1:p.Ile281Phe
XM_005258278.5:c.1306A>T	XP_005258335.1:p.Ile436Phe
XM_005258279.2:c.1255A>T	XP_005258336.1:p.Ile419Phe
XM_006722479.3:c.1306A>T	XP_006722542.1:p.Ile436Phe
XM_017025784.1:c.1306A>T	XP_016881273.1:p.Ile436Phe
XM_017025785.1:c.1306A>T	XP_016881274.1:p.Ile436Phe
XM_017025786.1:c.1255A>T	XP_016881275.1:p.Ile419Phe
XM_017025787.1:c.1255A>T	XP_016881276.1:p.Ile419Phe
NM_000271.5:c.1255A>T MANE Select	NP_000262.2:p.Ile419Phe