Canonical Allele Identifier: CA409918187

Gene: PIGP

Linked Data

• MyVariant Identifiers: chr21:g.38437923T>A (hg19) ; chr21:g.37065623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065623T>A , CM000683.2:g.37065623T>A	GRCh38
NC_000021.8:g.38437923T>A , CM000683.1:g.38437923T>A	GRCh37
NC_000021.7:g.37359793T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.364A>T MANE Select	ENSP00000353719.3:p.Met122Leu
ENST00000329667.7:n.313A>T
ENST00000360525.8:c.364A>T	ENSP00000353719.3:p.Met122Leu
ENST00000399098.5:c.286A>T	ENSP00000382049.1:p.Met96Leu
ENST00000399102.5:c.364A>T	ENSP00000382053.1:p.Met122Leu
ENST00000399103.5:c.364A>T	ENSP00000382054.1:p.Met122Leu
ENST00000464265.5:c.436A>T	ENSP00000420037.1:p.Met146Leu
NM_153681.2:c.436A>T	NP_710148.1:p.Met146Leu
NM_153682.2:c.364A>T	NP_710149.1:p.Met122Leu
NR_028352.1:n.711A>T
XM_005260990.3:c.364A>T	XP_005261047.1:p.Met122Leu
XM_011529595.1:c.364A>T	XP_011527897.1:p.Met122Leu
XM_011529596.1:c.364A>T	XP_011527898.1:p.Met122Leu
NM_001320480.1:c.364A>T	NP_001307409.1:p.Met122Leu
NM_016430.3:c.286A>T	NP_057514.2:p.Met96Leu
XM_017028365.1:c.286A>T	XP_016883854.1:p.Met96Leu
NM_001320480.2:c.364A>T	NP_001307409.1:p.Met122Leu
NM_016430.4:c.286A>T	NP_057514.2:p.Met96Leu
NM_153682.3:c.364A>T MANE Select	NP_710149.1:p.Met122Leu