Canonical Allele Identifier: CA401791066

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534543A>C , CM000680.2:g.23534543A>C	GRCh38
NC_000018.9:g.21114507A>C , CM000680.1:g.21114507A>C	GRCh37
NC_000018.8:g.19368505A>C	NCBI36
NG_012795.1:g.57075T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3494T>G MANE Select	NP_000262.2:p.Val1165Gly
ENST00000269228.10:c.3494T>G MANE Select	ENSP00000269228.4:p.Val1165Gly
NM_000271.4:c.3494T>G	NP_000262.2:p.Val1165Gly
ENST00000269228.9:c.3494T>G	ENSP00000269228.4:p.Val1165Gly
ENST00000586150.5:c.249T>G
ENST00000587163.1:n.18T>G
ENST00000588867.1:n.249T>G
ENST00000591051.1:c.2572T>G
ENST00000591107.6:c.171T>G
XM_005258277.1:c.3545T>G	XP_005258334.1:p.Val1182Gly
XM_005258278.3:c.3545T>G	XP_005258335.1:p.Val1182Gly
XM_005258278.5:c.3545T>G	XP_005258335.1:p.Val1182Gly
XM_005258279.1:c.3494T>G	XP_005258336.1:p.Val1165Gly
XM_005258279.2:c.3494T>G	XP_005258336.1:p.Val1165Gly
XM_006722479.2:c.3545T>G	XP_006722542.1:p.Val1182Gly
XM_006722479.3:c.3545T>G	XP_006722542.1:p.Val1182Gly
XM_011526015.1:c.3080T>G	XP_011524317.1:p.Val1027Gly
XM_017025784.1:c.3545T>G	XP_016881273.1:p.Val1182Gly
XM_017025785.1:c.3545T>G	XP_016881274.1:p.Val1182Gly
XM_017025786.1:c.3494T>G	XP_016881275.1:p.Val1165Gly
XM_017025787.1:c.3494T>G	XP_016881276.1:p.Val1165Gly