Canonical Allele Identifier: CA409918059

Gene: PIGP

Linked Data

• gnomAD v4: 21-37065602-C-T
• MyVariant Identifiers: chr21:g.38437902C>T (hg19) ; chr21:g.37065602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065602C>T , CM000683.2:g.37065602C>T	GRCh38
NC_000021.8:g.38437902C>T , CM000683.1:g.38437902C>T	GRCh37
NC_000021.7:g.37359772C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.385G>A MANE Select	ENSP00000353719.3:p.Glu129Lys
ENST00000329667.7:n.334G>A
ENST00000360525.8:c.385G>A	ENSP00000353719.3:p.Glu129Lys
ENST00000399098.5:c.307G>A	ENSP00000382049.1:p.Glu103Lys
ENST00000399102.5:c.385G>A	ENSP00000382053.1:p.Glu129Lys
ENST00000399103.5:c.385G>A	ENSP00000382054.1:p.Glu129Lys
ENST00000464265.5:c.457G>A	ENSP00000420037.1:p.Glu153Lys
NM_153681.2:c.457G>A	NP_710148.1:p.Glu153Lys
NM_153682.2:c.385G>A	NP_710149.1:p.Glu129Lys
NR_028352.1:n.732G>A
XM_005260990.3:c.385G>A	XP_005261047.1:p.Glu129Lys
XM_011529595.1:c.385G>A	XP_011527897.1:p.Glu129Lys
XM_011529596.1:c.385G>A	XP_011527898.1:p.Glu129Lys
NM_001320480.1:c.385G>A	NP_001307409.1:p.Glu129Lys
NM_016430.3:c.307G>A	NP_057514.2:p.Glu103Lys
XM_017028365.1:c.307G>A	XP_016883854.1:p.Glu103Lys
NM_001320480.2:c.385G>A	NP_001307409.1:p.Glu129Lys
NM_016430.4:c.307G>A	NP_057514.2:p.Glu103Lys
NM_153682.3:c.385G>A MANE Select	NP_710149.1:p.Glu129Lys