Canonical Allele Identifier: CA10021030

Gene: PIGP

Linked Data

• ClinVar Variation Id: 1904355
• ClinVar RCV Id: RCV002574238
• dbSNP Id: rs763288452
• ExAC: 21:38437954 T / A
• gnomAD v2: 21-38437954-T-A
• gnomAD v3: 21-37065654-T-A
• gnomAD v4: 21-37065654-T-A
• MyVariant Identifiers: chr21:g.38437954T>A (hg19) ; chr21:g.37065654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065654T>A , CM000683.2:g.37065654T>A	GRCh38
NC_000021.8:g.38437954T>A , CM000683.1:g.38437954T>A	GRCh37
NC_000021.7:g.37359824T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.333A>T MANE Select	ENSP00000353719.3:p.Leu111Phe
ENST00000329667.7:n.282A>T
ENST00000360525.8:c.333A>T	ENSP00000353719.3:p.Leu111Phe
ENST00000399098.5:c.255A>T	ENSP00000382049.1:p.Leu85Phe
ENST00000399102.5:c.333A>T	ENSP00000382053.1:p.Leu111Phe
ENST00000399103.5:c.333A>T	ENSP00000382054.1:p.Leu111Phe
ENST00000464265.5:c.405A>T	ENSP00000420037.1:p.Leu135Phe
NM_153681.2:c.405A>T	NP_710148.1:p.Leu135Phe
NM_153682.2:c.333A>T	NP_710149.1:p.Leu111Phe
NR_028352.1:n.680A>T
XM_005260990.3:c.333A>T	XP_005261047.1:p.Leu111Phe
XM_011529595.1:c.333A>T	XP_011527897.1:p.Leu111Phe
XM_011529596.1:c.333A>T	XP_011527898.1:p.Leu111Phe
NM_001320480.1:c.333A>T	NP_001307409.1:p.Leu111Phe
NM_016430.3:c.255A>T	NP_057514.2:p.Leu85Phe
XM_017028365.1:c.255A>T	XP_016883854.1:p.Leu85Phe
NM_001320480.2:c.333A>T	NP_001307409.1:p.Leu111Phe
NM_016430.4:c.255A>T	NP_057514.2:p.Leu85Phe
NM_153682.3:c.333A>T MANE Select	NP_710149.1:p.Leu111Phe