Canonical Allele Identifier: CA212756

Gene: P3H1

Linked Data

• ClinVar Variation Id: 1253
• ClinVar RCV Id: RCV000001315 ; RCV000255762 ; RCV002276526 ; RCV003914795
• dbSNP Id: rs72659351
• ExAC: 1:43223453 C / A
• gnomAD v2: 1-43223453-C-A
• gnomAD v3: 1-42757782-C-A
• gnomAD v4: 1-42757782-C-A
• MyVariant Identifiers: chr1:g.43223453C>A (hg19) ; chr1:g.42757782C>A (hg38)
• PubMed: PMID:17277775 ; PMID:22281939

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42757782C>A , CM000663.2:g.42757782C>A	GRCh38
NC_000001.10:g.43223453C>A , CM000663.1:g.43223453C>A	GRCh37
NC_000001.9:g.42996040C>A	NCBI36
NG_008123.1:g.14303G>T , LRG_5:g.14303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1080+1G>T MANE Select	ENSP00000296388.5:n.1080+1G>T
ENST00000236040.8:c.1080+1G>T	ENSP00000236040.4:n.1080+1G>T
ENST00000296388.9:c.1080+1G>T	ENSP00000296388.5:n.1080+1G>T
ENST00000397054.7:c.1080+1G>T	ENSP00000380245.3:n.1080+1G>T
ENST00000460031.5:n.1098+1G>T
ENST00000463465.1:n.569+1G>T
ENST00000495874.5:n.1131+1G>T
NM_001146289.1:c.1080+1G>T , LRG_5t2:c.1080+1G>T	NP_001139761.1:n.1080+1G>T
NM_001243246.1:c.1080+1G>T , LRG_5t3:c.1080+1G>T	NP_001230175.1:n.1080+1G>T
NM_022356.3:c.1080+1G>T , LRG_5t1:c.1080+1G>T	NP_071751.3:n.1080+1G>T
XM_005271110.2:c.72+1G>T	XP_005271167.1:n.72+1G>T
XM_011541947.1:c.50+1G>T	XP_011540249.1:n.50+1G>T
XM_011541948.1:c.50+1G>T	XP_011540250.1:n.50+1G>T
XM_011541949.1:c.50+1G>T	XP_011540251.1:n.50+1G>T
XR_946739.1:n.1137+1G>T
XM_017002051.2:c.50+1G>T	XP_016857540.1:n.50+1G>T
XM_017002052.2:c.50+1G>T	XP_016857541.1:n.50+1G>T
XR_946739.2:n.1137+1G>T
NM_022356.4:c.1080+1G>T MANE Select	NP_071751.3:n.1080+1G>T
NM_001146289.2:c.1080+1G>T	NP_001139761.1:n.1080+1G>T
NM_001243246.2:c.1080+1G>T	NP_001230175.1:n.1080+1G>T