Canonical Allele Identifier: CA409918111

Gene: PIGP

Linked Data

• dbSNP Id: rs142431257
• gnomAD v2: 21-38437911-C-A
• gnomAD v4: 21-37065611-C-A
• MyVariant Identifiers: chr21:g.38437911C>A (hg19) ; chr21:g.38437911_38437912delinsAA (hg19) ; chr21:g.37065611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065611C>A , CM000683.2:g.37065611C>A	GRCh38
NC_000021.8:g.38437911C>A , CM000683.1:g.38437911C>A	GRCh37
NC_000021.7:g.37359781C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.376G>T MANE Select	ENSP00000353719.3:p.Ala126Ser
ENST00000329667.7:n.325G>T
ENST00000360525.8:c.376G>T	ENSP00000353719.3:p.Ala126Ser
ENST00000399098.5:c.298G>T	ENSP00000382049.1:p.Ala100Ser
ENST00000399102.5:c.376G>T	ENSP00000382053.1:p.Ala126Ser
ENST00000399103.5:c.376G>T	ENSP00000382054.1:p.Ala126Ser
ENST00000464265.5:c.448G>T	ENSP00000420037.1:p.Ala150Ser
NM_153681.2:c.448G>T	NP_710148.1:p.Ala150Ser
NM_153682.2:c.376G>T	NP_710149.1:p.Ala126Ser
NR_028352.1:n.723G>T
XM_005260990.3:c.376G>T	XP_005261047.1:p.Ala126Ser
XM_011529595.1:c.376G>T	XP_011527897.1:p.Ala126Ser
XM_011529596.1:c.376G>T	XP_011527898.1:p.Ala126Ser
NM_001320480.1:c.376G>T	NP_001307409.1:p.Ala126Ser
NM_016430.3:c.298G>T	NP_057514.2:p.Ala100Ser
XM_017028365.1:c.298G>T	XP_016883854.1:p.Ala100Ser
NM_001320480.2:c.376G>T	NP_001307409.1:p.Ala126Ser
NM_016430.4:c.298G>T	NP_057514.2:p.Ala100Ser
NM_153682.3:c.376G>T MANE Select	NP_710149.1:p.Ala126Ser