Canonical Allele Identifier: CA401775782

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1497153
• ClinVar RCV Id: RCV002019754
• dbSNP Id: rs2145447843
• MyVariant Identifiers: chr18:g.21134860A>G (hg19) ; chr18:g.23554896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554896A>G , CM000680.2:g.23554896A>G	GRCh38
NC_000018.9:g.21134860A>G , CM000680.1:g.21134860A>G	GRCh37
NC_000018.8:g.19388858A>G	NCBI36
NG_012795.1:g.36722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1415T>C MANE Select	ENSP00000269228.4:p.Leu472Pro
ENST00000269228.9:c.1415T>C	ENSP00000269228.4:p.Leu472Pro
ENST00000540608.5:n.1329T>C
ENST00000590301.1:n.90T>C
ENST00000591051.1:c.697T>C
NM_000271.4:c.1415T>C	NP_000262.2:p.Leu472Pro
XM_005258277.1:c.1466T>C	XP_005258334.1:p.Leu489Pro
XM_005258278.3:c.1466T>C	XP_005258335.1:p.Leu489Pro
XM_005258279.1:c.1415T>C	XP_005258336.1:p.Leu472Pro
XM_006722479.2:c.1466T>C	XP_006722542.1:p.Leu489Pro
XM_011526015.1:c.1001T>C	XP_011524317.1:p.Leu334Pro
XM_005258278.5:c.1466T>C	XP_005258335.1:p.Leu489Pro
XM_005258279.2:c.1415T>C	XP_005258336.1:p.Leu472Pro
XM_006722479.3:c.1466T>C	XP_006722542.1:p.Leu489Pro
XM_017025784.1:c.1466T>C	XP_016881273.1:p.Leu489Pro
XM_017025785.1:c.1466T>C	XP_016881274.1:p.Leu489Pro
XM_017025786.1:c.1415T>C	XP_016881275.1:p.Leu472Pro
XM_017025787.1:c.1415T>C	XP_016881276.1:p.Leu472Pro
NM_000271.5:c.1415T>C MANE Select	NP_000262.2:p.Leu472Pro