Canonical Allele Identifier: CA512083180

Gene: PIGP

Linked Data

• ClinVar Variation Id: 2113371
• ClinVar RCV Id: RCV003038737
• dbSNP Id: rs1488866991
• gnomAD v4: 21-37065705-A-G
• MyVariant Identifiers: chr21:g.38438005A>G (hg19) ; chr21:g.37065705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065705A>G , CM000683.2:g.37065705A>G	GRCh38
NC_000021.8:g.38438005A>G , CM000683.1:g.38438005A>G	GRCh37
NC_000021.7:g.37359875A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.282T>C MANE Select	ENSP00000353719.3:p.Tyr94=
ENST00000329667.7:n.231T>C
ENST00000360525.8:c.282T>C	ENSP00000353719.3:p.Tyr94=
ENST00000399098.5:c.204T>C	ENSP00000382049.1:p.Tyr68=
ENST00000399102.5:c.282T>C	ENSP00000382053.1:p.Tyr94=
ENST00000399103.5:c.282T>C	ENSP00000382054.1:p.Tyr94=
ENST00000464265.5:c.354T>C	ENSP00000420037.1:p.Tyr118=
NM_153681.2:c.354T>C	NP_710148.1:p.Tyr118=
NM_153682.2:c.282T>C	NP_710149.1:p.Tyr94=
NR_028352.1:n.629T>C
XM_005260990.3:c.282T>C	XP_005261047.1:p.Tyr94=
XM_011529595.1:c.282T>C	XP_011527897.1:p.Tyr94=
XM_011529596.1:c.282T>C	XP_011527898.1:p.Tyr94=
NM_001320480.1:c.282T>C	NP_001307409.1:p.Tyr94=
NM_016430.3:c.204T>C	NP_057514.2:p.Tyr68=
XM_017028365.1:c.204T>C	XP_016883854.1:p.Tyr68=
NM_001320480.2:c.282T>C	NP_001307409.1:p.Tyr94=
NM_016430.4:c.204T>C	NP_057514.2:p.Tyr68=
NM_153682.3:c.282T>C MANE Select	NP_710149.1:p.Tyr94=