Canonical Allele Identifier: CA512083143
Gene: PIGP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.38437939A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37065639A>T , CM000683.2:g.37065639A>T GRCh38
NC_000021.8:g.38437939A>T , CM000683.1:g.38437939A>T GRCh37
NC_000021.7:g.37359809A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360525.9:c.348T>A MANE Select ENSP00000353719.3:p.Ile116=
ENST00000329667.7:n.297T>A
ENST00000360525.8:c.348T>A ENSP00000353719.3:p.Ile116=
ENST00000399098.5:c.270T>A ENSP00000382049.1:p.Ile90=
ENST00000399102.5:c.348T>A ENSP00000382053.1:p.Ile116=
ENST00000399103.5:c.348T>A ENSP00000382054.1:p.Ile116=
ENST00000464265.5:c.420T>A ENSP00000420037.1:p.Ile140=
NM_153681.2:c.420T>A NP_710148.1:p.Ile140=
NM_153682.2:c.348T>A NP_710149.1:p.Ile116=
NR_028352.1:n.695T>A
XM_005260990.3:c.348T>A XP_005261047.1:p.Ile116=
XM_011529595.1:c.348T>A XP_011527897.1:p.Ile116=
XM_011529596.1:c.348T>A XP_011527898.1:p.Ile116=
NM_001320480.1:c.348T>A NP_001307409.1:p.Ile116=
NM_016430.3:c.270T>A NP_057514.2:p.Ile90=
XM_017028365.1:c.270T>A XP_016883854.1:p.Ile90=
NM_001320480.2:c.348T>A NP_001307409.1:p.Ile116=
NM_016430.4:c.270T>A NP_057514.2:p.Ile90=
NM_153682.3:c.348T>A MANE Select NP_710149.1:p.Ile116=