Canonical Allele Identifier: CA503522147

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1142121
• ClinVar RCV Id: RCV001479788
• dbSNP Id: rs1445528921
• gnomAD v2: 18-21140353-T-C
• gnomAD v4: 18-23560389-T-C
• MyVariant Identifiers: chr18:g.21140353T>C (hg19) ; chr18:g.23560389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560389T>C , CM000680.2:g.23560389T>C	GRCh38
NC_000018.9:g.21140353T>C , CM000680.1:g.21140353T>C	GRCh37
NC_000018.8:g.19394351T>C	NCBI36
NG_012795.1:g.31229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.723A>G MANE Select	ENSP00000269228.4:p.Gln241=
ENST00000269228.9:c.723A>G	ENSP00000269228.4:p.Gln241=
ENST00000540608.5:n.637A>G
NM_000271.4:c.723A>G	NP_000262.2:p.Gln241=
XM_005258277.1:c.723A>G	XP_005258334.1:p.Gln241=
XM_005258278.3:c.723A>G	XP_005258335.1:p.Gln241=
XM_005258279.1:c.723A>G	XP_005258336.1:p.Gln241=
XM_006722479.2:c.723A>G	XP_006722542.1:p.Gln241=
XM_011526015.1:c.258A>G	XP_011524317.1:p.Gln86=
XM_005258278.5:c.723A>G	XP_005258335.1:p.Gln241=
XM_005258279.2:c.723A>G	XP_005258336.1:p.Gln241=
XM_006722479.3:c.723A>G	XP_006722542.1:p.Gln241=
XM_017025784.1:c.723A>G	XP_016881273.1:p.Gln241=
XM_017025785.1:c.723A>G	XP_016881274.1:p.Gln241=
XM_017025786.1:c.723A>G	XP_016881275.1:p.Gln241=
XM_017025787.1:c.723A>G	XP_016881276.1:p.Gln241=
NM_000271.5:c.723A>G MANE Select	NP_000262.2:p.Gln241=