Canonical Allele Identifier: CA401792713

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2121442
• ClinVar RCV Id: RCV003049164
• MyVariant Identifiers: chr18:g.21119814A>T (hg19) ; chr18:g.23539850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539850A>T , CM000680.2:g.23539850A>T	GRCh38
NC_000018.9:g.21119814A>T , CM000680.1:g.21119814A>T	GRCh37
NC_000018.8:g.19373812A>T	NCBI36
NG_012795.1:g.51768T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2756T>A MANE Select	ENSP00000269228.4:p.Leu919Gln
ENST00000269228.9:c.2756T>A	ENSP00000269228.4:p.Leu919Gln
ENST00000540608.5:n.2670T>A
ENST00000586718.1:n.547T>A
ENST00000591051.1:c.1834T>A
ENST00000591075.1:n.49T>A
NM_000271.4:c.2756T>A	NP_000262.2:p.Leu919Gln
XM_005258277.1:c.2807T>A	XP_005258334.1:p.Leu936Gln
XM_005258278.3:c.2807T>A	XP_005258335.1:p.Leu936Gln
XM_005258279.1:c.2756T>A	XP_005258336.1:p.Leu919Gln
XM_006722479.2:c.2807T>A	XP_006722542.1:p.Leu936Gln
XM_011526015.1:c.2342T>A	XP_011524317.1:p.Leu781Gln
XM_005258278.5:c.2807T>A	XP_005258335.1:p.Leu936Gln
XM_005258279.2:c.2756T>A	XP_005258336.1:p.Leu919Gln
XM_006722479.3:c.2807T>A	XP_006722542.1:p.Leu936Gln
XM_017025784.1:c.2807T>A	XP_016881273.1:p.Leu936Gln
XM_017025785.1:c.2807T>A	XP_016881274.1:p.Leu936Gln
XM_017025786.1:c.2756T>A	XP_016881275.1:p.Leu919Gln
XM_017025787.1:c.2756T>A	XP_016881276.1:p.Leu919Gln
NM_000271.5:c.2756T>A MANE Select	NP_000262.2:p.Leu919Gln