Canonical Allele Identifier: CA8912987

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2139354
• ClinVar RCV Id: RCV003050969 ; RCV003066577
• dbSNP Id: rs746398811
• ExAC: 18:21119836 T / G
• gnomAD v2: 18-21119836-T-G
• gnomAD v3: 18-23539872-T-G
• gnomAD v4: 18-23539872-T-G
• MyVariant Identifiers: chr18:g.21119836T>G (hg19) ; chr18:g.23539872T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539872T>G , CM000680.2:g.23539872T>G	GRCh38
NC_000018.9:g.21119836T>G , CM000680.1:g.21119836T>G	GRCh37
NC_000018.8:g.19373834T>G	NCBI36
NG_012795.1:g.51746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2734A>C MANE Select	ENSP00000269228.4:p.Met912Leu
ENST00000269228.9:c.2734A>C	ENSP00000269228.4:p.Met912Leu
ENST00000540608.5:n.2648A>C
ENST00000586718.1:n.525A>C
ENST00000591051.1:c.1812A>C
ENST00000591075.1:n.27A>C
NM_000271.4:c.2734A>C	NP_000262.2:p.Met912Leu
XM_005258277.1:c.2785A>C	XP_005258334.1:p.Met929Leu
XM_005258278.3:c.2785A>C	XP_005258335.1:p.Met929Leu
XM_005258279.1:c.2734A>C	XP_005258336.1:p.Met912Leu
XM_006722479.2:c.2785A>C	XP_006722542.1:p.Met929Leu
XM_011526015.1:c.2320A>C	XP_011524317.1:p.Met774Leu
XM_005258278.5:c.2785A>C	XP_005258335.1:p.Met929Leu
XM_005258279.2:c.2734A>C	XP_005258336.1:p.Met912Leu
XM_006722479.3:c.2785A>C	XP_006722542.1:p.Met929Leu
XM_017025784.1:c.2785A>C	XP_016881273.1:p.Met929Leu
XM_017025785.1:c.2785A>C	XP_016881274.1:p.Met929Leu
XM_017025786.1:c.2734A>C	XP_016881275.1:p.Met912Leu
XM_017025787.1:c.2734A>C	XP_016881276.1:p.Met912Leu
NM_000271.5:c.2734A>C MANE Select	NP_000262.2:p.Met912Leu