Canonical Allele Identifier: CA2290165782
Gene: NPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539508G= , CM000680.2:g.23539508G= GRCh38
NC_000018.9:g.21119472G= , CM000680.1:g.21119472G= GRCh37
NC_000018.8:g.19373470G= NCBI36
NG_012795.1:g.52110C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.2796-38C= MANE Select ENSP00000269228.4:n.2796-38C=
ENST00000269228.9:c.2796-38C= ENSP00000269228.4:n.2796-38C=
ENST00000591051.1:c.1874-38C=
ENST00000591075.1:n.391C=
NM_000271.4:c.2796-38C= NP_000262.2:n.2796-38C=
XM_005258277.1:c.2847-38C= XP_005258334.1:n.2847-38C=
XM_005258278.3:c.2847-38C= XP_005258335.1:n.2847-38C=
XM_005258279.1:c.2796-38C= XP_005258336.1:n.2796-38C=
XM_006722479.2:c.2847-38C= XP_006722542.1:n.2847-38C=
XM_011526015.1:c.2382-38C= XP_011524317.1:n.2382-38C=
XM_005258278.5:c.2847-38C= XP_005258335.1:n.2847-38C=
XM_005258279.2:c.2796-38C= XP_005258336.1:n.2796-38C=
XM_006722479.3:c.2847-38C= XP_006722542.1:n.2847-38C=
XM_017025784.1:c.2847-38C= XP_016881273.1:n.2847-38C=
XM_017025785.1:c.2847-38C= XP_016881274.1:n.2847-38C=
XM_017025786.1:c.2796-38C= XP_016881275.1:n.2796-38C=
XM_017025787.1:c.2796-38C= XP_016881276.1:n.2796-38C=
NM_000271.5:c.2796-38C= MANE Select NP_000262.2:n.2796-38C=