Canonical Allele Identifier: CA503521712

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2749784
• ClinVar RCV Id: RCV003500004
• MyVariant Identifiers: chr18:g.21115556G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535592G>A , CM000680.2:g.23535592G>A	GRCh38
NC_000018.9:g.21115556G>A , CM000680.1:g.21115556G>A	GRCh37
NC_000018.8:g.19369554G>A	NCBI36
NG_012795.1:g.56026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3354C>T MANE Select	ENSP00000269228.4:p.Gly1118=
ENST00000269228.9:c.3354C>T	ENSP00000269228.4:p.Gly1118=
ENST00000586150.5:c.109C>T
ENST00000588867.1:n.109C>T
ENST00000591051.1:c.2432C>T
ENST00000591107.6:c.31C>T
NM_000271.4:c.3354C>T	NP_000262.2:p.Gly1118=
XM_005258277.1:c.3405C>T	XP_005258334.1:p.Gly1135=
XM_005258278.3:c.3405C>T	XP_005258335.1:p.Gly1135=
XM_005258279.1:c.3354C>T	XP_005258336.1:p.Gly1118=
XM_006722479.2:c.3405C>T	XP_006722542.1:p.Gly1135=
XM_011526015.1:c.2940C>T	XP_011524317.1:p.Gly980=
XM_005258278.5:c.3405C>T	XP_005258335.1:p.Gly1135=
XM_005258279.2:c.3354C>T	XP_005258336.1:p.Gly1118=
XM_006722479.3:c.3405C>T	XP_006722542.1:p.Gly1135=
XM_017025784.1:c.3405C>T	XP_016881273.1:p.Gly1135=
XM_017025785.1:c.3405C>T	XP_016881274.1:p.Gly1135=
XM_017025786.1:c.3354C>T	XP_016881275.1:p.Gly1118=
XM_017025787.1:c.3354C>T	XP_016881276.1:p.Gly1118=
NM_000271.5:c.3354C>T MANE Select	NP_000262.2:p.Gly1118=