Canonical Allele Identifier: CA409918042

Gene: PIGP

Linked Data

• MyVariant Identifiers: chr21:g.38437899G>C (hg19) ; chr21:g.37065599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065599G>C , CM000683.2:g.37065599G>C	GRCh38
NC_000021.8:g.38437899G>C , CM000683.1:g.38437899G>C	GRCh37
NC_000021.7:g.37359769G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.388C>G MANE Select	ENSP00000353719.3:p.Leu130Val
ENST00000329667.7:n.337C>G
ENST00000360525.8:c.388C>G	ENSP00000353719.3:p.Leu130Val
ENST00000399098.5:c.310C>G	ENSP00000382049.1:p.Leu104Val
ENST00000399102.5:c.388C>G	ENSP00000382053.1:p.Leu130Val
ENST00000399103.5:c.388C>G	ENSP00000382054.1:p.Leu130Val
ENST00000464265.5:c.460C>G	ENSP00000420037.1:p.Leu154Val
NM_153681.2:c.460C>G	NP_710148.1:p.Leu154Val
NM_153682.2:c.388C>G	NP_710149.1:p.Leu130Val
NR_028352.1:n.735C>G
XM_005260990.3:c.388C>G	XP_005261047.1:p.Leu130Val
XM_011529595.1:c.388C>G	XP_011527897.1:p.Leu130Val
XM_011529596.1:c.388C>G	XP_011527898.1:p.Leu130Val
NM_001320480.1:c.388C>G	NP_001307409.1:p.Leu130Val
NM_016430.3:c.310C>G	NP_057514.2:p.Leu104Val
XM_017028365.1:c.310C>G	XP_016883854.1:p.Leu104Val
NM_001320480.2:c.388C>G	NP_001307409.1:p.Leu130Val
NM_016430.4:c.310C>G	NP_057514.2:p.Leu104Val
NM_153682.3:c.388C>G MANE Select	NP_710149.1:p.Leu130Val