Canonical Allele Identifier: CA512083139

Gene: PIGP

Linked Data

• MyVariant Identifiers: chr21:g.38437930T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065630T>G , CM000683.2:g.37065630T>G	GRCh38
NC_000021.8:g.38437930T>G , CM000683.1:g.38437930T>G	GRCh37
NC_000021.7:g.37359800T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.357A>C MANE Select	ENSP00000353719.3:p.Val119=
ENST00000329667.7:n.306A>C
ENST00000360525.8:c.357A>C	ENSP00000353719.3:p.Val119=
ENST00000399098.5:c.279A>C	ENSP00000382049.1:p.Val93=
ENST00000399102.5:c.357A>C	ENSP00000382053.1:p.Val119=
ENST00000399103.5:c.357A>C	ENSP00000382054.1:p.Val119=
ENST00000464265.5:c.429A>C	ENSP00000420037.1:p.Val143=
NM_153681.2:c.429A>C	NP_710148.1:p.Val143=
NM_153682.2:c.357A>C	NP_710149.1:p.Val119=
NR_028352.1:n.704A>C
XM_005260990.3:c.357A>C	XP_005261047.1:p.Val119=
XM_011529595.1:c.357A>C	XP_011527897.1:p.Val119=
XM_011529596.1:c.357A>C	XP_011527898.1:p.Val119=
NM_001320480.1:c.357A>C	NP_001307409.1:p.Val119=
NM_016430.3:c.279A>C	NP_057514.2:p.Val93=
XM_017028365.1:c.279A>C	XP_016883854.1:p.Val93=
NM_001320480.2:c.357A>C	NP_001307409.1:p.Val119=
NM_016430.4:c.279A>C	NP_057514.2:p.Val93=
NM_153682.3:c.357A>C MANE Select	NP_710149.1:p.Val119=