Canonical Allele Identifier: CA512083182
Gene: PIGP HGNC NCBI

Linked Data

dbSNP Id: rs773741455
MyVariant Identifiers: chr21:g.38438008G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37065708G>A , CM000683.2:g.37065708G>A GRCh38
NC_000021.8:g.38438008G>A , CM000683.1:g.38438008G>A GRCh37
NC_000021.7:g.37359878G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360525.9:c.279C>T MANE Select ENSP00000353719.3:p.Asn93=
ENST00000329667.7:n.228C>T
ENST00000360525.8:c.279C>T ENSP00000353719.3:p.Asn93=
ENST00000399098.5:c.201C>T ENSP00000382049.1:p.Asn67=
ENST00000399102.5:c.279C>T ENSP00000382053.1:p.Asn93=
ENST00000399103.5:c.279C>T ENSP00000382054.1:p.Asn93=
ENST00000464265.5:c.351C>T ENSP00000420037.1:p.Asn117=
NM_153681.2:c.351C>T NP_710148.1:p.Asn117=
NM_153682.2:c.279C>T NP_710149.1:p.Asn93=
NR_028352.1:n.626C>T
XM_005260990.3:c.279C>T XP_005261047.1:p.Asn93=
XM_011529595.1:c.279C>T XP_011527897.1:p.Asn93=
XM_011529596.1:c.279C>T XP_011527898.1:p.Asn93=
NM_001320480.1:c.279C>T NP_001307409.1:p.Asn93=
NM_016430.3:c.201C>T NP_057514.2:p.Asn67=
XM_017028365.1:c.201C>T XP_016883854.1:p.Asn67=
NM_001320480.2:c.279C>T NP_001307409.1:p.Asn93=
NM_016430.4:c.201C>T NP_057514.2:p.Asn67=
NM_153682.3:c.279C>T MANE Select NP_710149.1:p.Asn93=