Canonical Allele Identifier: CA10021047

Gene: PIGP

Linked Data

• dbSNP Id: rs16994704
• ExAC: 21:38438006 T / A
• gnomAD v2: 21-38438006-T-A
• gnomAD v4: 21-37065706-T-A
• MyVariant Identifiers: chr21:g.38438006T>A (hg19) ; chr21:g.37065706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065706T>A , CM000683.2:g.37065706T>A	GRCh38
NC_000021.8:g.38438006T>A , CM000683.1:g.38438006T>A	GRCh37
NC_000021.7:g.37359876T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.281A>T MANE Select	ENSP00000353719.3:p.Tyr94Phe
ENST00000329667.7:n.230A>T
ENST00000360525.8:c.281A>T	ENSP00000353719.3:p.Tyr94Phe
ENST00000399098.5:c.203A>T	ENSP00000382049.1:p.Tyr68Phe
ENST00000399102.5:c.281A>T	ENSP00000382053.1:p.Tyr94Phe
ENST00000399103.5:c.281A>T	ENSP00000382054.1:p.Tyr94Phe
ENST00000464265.5:c.353A>T	ENSP00000420037.1:p.Tyr118Phe
NM_153681.2:c.353A>T	NP_710148.1:p.Tyr118Phe
NM_153682.2:c.281A>T	NP_710149.1:p.Tyr94Phe
NR_028352.1:n.628A>T
XM_005260990.3:c.281A>T	XP_005261047.1:p.Tyr94Phe
XM_011529595.1:c.281A>T	XP_011527897.1:p.Tyr94Phe
XM_011529596.1:c.281A>T	XP_011527898.1:p.Tyr94Phe
NM_001320480.1:c.281A>T	NP_001307409.1:p.Tyr94Phe
NM_016430.3:c.203A>T	NP_057514.2:p.Tyr68Phe
XM_017028365.1:c.203A>T	XP_016883854.1:p.Tyr68Phe
NM_001320480.2:c.281A>T	NP_001307409.1:p.Tyr94Phe
NM_016430.4:c.203A>T	NP_057514.2:p.Tyr68Phe
NM_153682.3:c.281A>T MANE Select	NP_710149.1:p.Tyr94Phe