Canonical Allele Identifier: CA297081164

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1809714
• ClinVar RCV Id: RCV002505929
• dbSNP Id: rs905674957
• gnomAD v3: 18-23539402-G-A
• gnomAD v4: 18-23539402-G-A
• MyVariant Identifiers: chr18:g.21119366G>A (hg19) ; chr18:g.23539402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539402G>A , CM000680.2:g.23539402G>A	GRCh38
NC_000018.9:g.21119366G>A , CM000680.1:g.21119366G>A	GRCh37
NC_000018.8:g.19373364G>A	NCBI36
NG_012795.1:g.52216C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2864C>T MANE Select	ENSP00000269228.4:p.Ser955Phe
ENST00000269228.9:c.2864C>T	ENSP00000269228.4:p.Ser955Phe
ENST00000591051.1:c.1942C>T
ENST00000591075.1:n.497C>T
NM_000271.4:c.2864C>T	NP_000262.2:p.Ser955Phe
XM_005258277.1:c.2915C>T	XP_005258334.1:p.Ser972Phe
XM_005258278.3:c.2915C>T	XP_005258335.1:p.Ser972Phe
XM_005258279.1:c.2864C>T	XP_005258336.1:p.Ser955Phe
XM_006722479.2:c.2915C>T	XP_006722542.1:p.Ser972Phe
XM_011526015.1:c.2450C>T	XP_011524317.1:p.Ser817Phe
XM_005258278.5:c.2915C>T	XP_005258335.1:p.Ser972Phe
XM_005258279.2:c.2864C>T	XP_005258336.1:p.Ser955Phe
XM_006722479.3:c.2915C>T	XP_006722542.1:p.Ser972Phe
XM_017025784.1:c.2915C>T	XP_016881273.1:p.Ser972Phe
XM_017025785.1:c.2915C>T	XP_016881274.1:p.Ser972Phe
XM_017025786.1:c.2864C>T	XP_016881275.1:p.Ser955Phe
XM_017025787.1:c.2864C>T	XP_016881276.1:p.Ser955Phe
NM_000271.5:c.2864C>T MANE Select	NP_000262.2:p.Ser955Phe