Canonical Allele Identifier: CA8912643

Gene: NPC1

Linked Data

• dbSNP Id: rs749973222
• ExAC: 18:21112232 T / C
• MyVariant Identifiers: chr18:g.21112232T>C (hg19) ; chr18:g.23532268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532268T>C , CM000680.2:g.23532268T>C	GRCh38
NC_000018.9:g.21112232T>C , CM000680.1:g.21112232T>C	GRCh37
NC_000018.8:g.19366230T>C	NCBI36
NG_012795.1:g.59350A>G
NG_033119.1:g.33799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3771A>G MANE Select	ENSP00000269228.4:p.Lys1257=
ENST00000269228.9:c.3771A>G	ENSP00000269228.4:p.Lys1257=
ENST00000586150.5:c.509+1087A>G
ENST00000588867.1:n.1454A>G
ENST00000590723.5:c.163+1087A>G	ENSP00000464755.1:n.163+1087A>G
ENST00000591051.1:c.2849A>G
ENST00000591107.6:c.431+1087A>G
ENST00000593280.2:c.86+1087A>G
NM_000271.4:c.3771A>G	NP_000262.2:p.Lys1257=
XM_005258277.1:c.3805+1087A>G	XP_005258334.1:n.3805+1087A>G
XM_005258278.3:c.3822A>G	XP_005258335.1:p.Lys1274=
XM_005258279.1:c.3754+1087A>G	XP_005258336.1:n.3754+1087A>G
XM_006722479.2:c.3805+1087A>G	XP_006722542.1:n.3805+1087A>G
XM_011526015.1:c.3340+1087A>G	XP_011524317.1:n.3340+1087A>G
XM_005258278.5:c.3822A>G	XP_005258335.1:p.Lys1274=
XM_005258279.2:c.3754+1087A>G	XP_005258336.1:n.3754+1087A>G
XM_006722479.3:c.3805+1087A>G	XP_006722542.1:n.3805+1087A>G
XM_017025784.1:c.3805+1087A>G	XP_016881273.1:n.3805+1087A>G
XM_017025785.1:c.3805+1087A>G	XP_016881274.1:n.3805+1087A>G
XM_017025786.1:c.3754+1087A>G	XP_016881275.1:n.3754+1087A>G
XM_017025787.1:c.3754+1087A>G	XP_016881276.1:n.3754+1087A>G
NM_000271.5:c.3771A>G MANE Select	NP_000262.2:p.Lys1257=