Canonical Allele Identifier: CA401791310

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21115521G>T (hg19) ; chr18:g.23535557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535557G>T , CM000680.2:g.23535557G>T	GRCh38
NC_000018.9:g.21115521G>T , CM000680.1:g.21115521G>T	GRCh37
NC_000018.8:g.19369519G>T	NCBI36
NG_012795.1:g.56061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3389C>A MANE Select	ENSP00000269228.4:p.Thr1130Asn
ENST00000269228.9:c.3389C>A	ENSP00000269228.4:p.Thr1130Asn
ENST00000586150.5:c.144C>A
ENST00000588867.1:n.144C>A
ENST00000591051.1:c.2467C>A
ENST00000591107.6:c.66C>A
NM_000271.4:c.3389C>A	NP_000262.2:p.Thr1130Asn
XM_005258277.1:c.3440C>A	XP_005258334.1:p.Thr1147Asn
XM_005258278.3:c.3440C>A	XP_005258335.1:p.Thr1147Asn
XM_005258279.1:c.3389C>A	XP_005258336.1:p.Thr1130Asn
XM_006722479.2:c.3440C>A	XP_006722542.1:p.Thr1147Asn
XM_011526015.1:c.2975C>A	XP_011524317.1:p.Thr992Asn
XM_005258278.5:c.3440C>A	XP_005258335.1:p.Thr1147Asn
XM_005258279.2:c.3389C>A	XP_005258336.1:p.Thr1130Asn
XM_006722479.3:c.3440C>A	XP_006722542.1:p.Thr1147Asn
XM_017025784.1:c.3440C>A	XP_016881273.1:p.Thr1147Asn
XM_017025785.1:c.3440C>A	XP_016881274.1:p.Thr1147Asn
XM_017025786.1:c.3389C>A	XP_016881275.1:p.Thr1130Asn
XM_017025787.1:c.3389C>A	XP_016881276.1:p.Thr1130Asn
NM_000271.5:c.3389C>A MANE Select	NP_000262.2:p.Thr1130Asn