Canonical Allele Identifier: CA2739267632
Gene: PIGP HGNC NCBI

Linked Data

ClinVar Variation Id: 2814265
ClinVar RCV Id: RCV003680847

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37065725A>G , CM000683.2:g.37065725A>G GRCh38
NC_000021.8:g.38438025A>G , CM000683.1:g.38438025A>G GRCh37
NC_000021.7:g.37359895A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360525.9:c.275-13T>C MANE Select ENSP00000353719.3:n.275-13T>C
ENST00000329667.7:n.224-13T>C
ENST00000360525.8:c.275-13T>C ENSP00000353719.3:n.275-13T>C
ENST00000399098.5:c.197-13T>C ENSP00000382049.1:n.197-13T>C
ENST00000399102.5:c.275-13T>C ENSP00000382053.1:n.275-13T>C
ENST00000399103.5:c.275-13T>C ENSP00000382054.1:n.275-13T>C
ENST00000464265.5:c.347-13T>C ENSP00000420037.1:n.347-13T>C
NM_153681.2:c.347-13T>C NP_710148.1:n.347-13T>C
NM_153682.2:c.275-13T>C NP_710149.1:n.275-13T>C
NR_028352.1:n.622-13T>C
XM_005260990.3:c.275-13T>C XP_005261047.1:n.275-13T>C
XM_011529595.1:c.275-13T>C XP_011527897.1:n.275-13T>C
XM_011529596.1:c.275-13T>C XP_011527898.1:n.275-13T>C
NM_001320480.1:c.275-13T>C NP_001307409.1:n.275-13T>C
NM_016430.3:c.197-13T>C NP_057514.2:n.197-13T>C
XM_017028365.1:c.197-13T>C XP_016883854.1:n.197-13T>C
NM_001320480.2:c.275-13T>C NP_001307409.1:n.275-13T>C
NM_016430.4:c.197-13T>C NP_057514.2:n.197-13T>C
NM_153682.3:c.275-13T>C MANE Select NP_710149.1:n.275-13T>C