Canonical Allele Identifier: CA409918139

Gene: PIGP

Linked Data

• MyVariant Identifiers: chr21:g.38437916A>C (hg19) ; chr21:g.37065616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065616A>C , CM000683.2:g.37065616A>C	GRCh38
NC_000021.8:g.38437916A>C , CM000683.1:g.38437916A>C	GRCh37
NC_000021.7:g.37359786A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.371T>G MANE Select	ENSP00000353719.3:p.Phe124Cys
ENST00000329667.7:n.320T>G
ENST00000360525.8:c.371T>G	ENSP00000353719.3:p.Phe124Cys
ENST00000399098.5:c.293T>G	ENSP00000382049.1:p.Phe98Cys
ENST00000399102.5:c.371T>G	ENSP00000382053.1:p.Phe124Cys
ENST00000399103.5:c.371T>G	ENSP00000382054.1:p.Phe124Cys
ENST00000464265.5:c.443T>G	ENSP00000420037.1:p.Phe148Cys
NM_153681.2:c.443T>G	NP_710148.1:p.Phe148Cys
NM_153682.2:c.371T>G	NP_710149.1:p.Phe124Cys
NR_028352.1:n.718T>G
XM_005260990.3:c.371T>G	XP_005261047.1:p.Phe124Cys
XM_011529595.1:c.371T>G	XP_011527897.1:p.Phe124Cys
XM_011529596.1:c.371T>G	XP_011527898.1:p.Phe124Cys
NM_001320480.1:c.371T>G	NP_001307409.1:p.Phe124Cys
NM_016430.3:c.293T>G	NP_057514.2:p.Phe98Cys
XM_017028365.1:c.293T>G	XP_016883854.1:p.Phe98Cys
NM_001320480.2:c.371T>G	NP_001307409.1:p.Phe124Cys
NM_016430.4:c.293T>G	NP_057514.2:p.Phe98Cys
NM_153682.3:c.371T>G MANE Select	NP_710149.1:p.Phe124Cys