Canonical Allele Identifier: CA409918425

Gene: PIGP

Linked Data

• MyVariant Identifiers: chr21:g.38437970T>G (hg19) ; chr21:g.37065670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065670T>G , CM000683.2:g.37065670T>G	GRCh38
NC_000021.8:g.38437970T>G , CM000683.1:g.38437970T>G	GRCh37
NC_000021.7:g.37359840T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.317A>C MANE Select	ENSP00000353719.3:p.Glu106Ala
ENST00000329667.7:n.266A>C
ENST00000360525.8:c.317A>C	ENSP00000353719.3:p.Glu106Ala
ENST00000399098.5:c.239A>C	ENSP00000382049.1:p.Glu80Ala
ENST00000399102.5:c.317A>C	ENSP00000382053.1:p.Glu106Ala
ENST00000399103.5:c.317A>C	ENSP00000382054.1:p.Glu106Ala
ENST00000464265.5:c.389A>C	ENSP00000420037.1:p.Glu130Ala
NM_153681.2:c.389A>C	NP_710148.1:p.Glu130Ala
NM_153682.2:c.317A>C	NP_710149.1:p.Glu106Ala
NR_028352.1:n.664A>C
XM_005260990.3:c.317A>C	XP_005261047.1:p.Glu106Ala
XM_011529595.1:c.317A>C	XP_011527897.1:p.Glu106Ala
XM_011529596.1:c.317A>C	XP_011527898.1:p.Glu106Ala
NM_001320480.1:c.317A>C	NP_001307409.1:p.Glu106Ala
NM_016430.3:c.239A>C	NP_057514.2:p.Glu80Ala
XM_017028365.1:c.239A>C	XP_016883854.1:p.Glu80Ala
NM_001320480.2:c.317A>C	NP_001307409.1:p.Glu106Ala
NM_016430.4:c.239A>C	NP_057514.2:p.Glu80Ala
NM_153682.3:c.317A>C MANE Select	NP_710149.1:p.Glu106Ala