Canonical Allele Identifier: CA512083165
Gene: PIGP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.38437975T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37065675T>C , CM000683.2:g.37065675T>C GRCh38
NC_000021.8:g.38437975T>C , CM000683.1:g.38437975T>C GRCh37
NC_000021.7:g.37359845T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360525.9:c.312A>G MANE Select ENSP00000353719.3:p.Gln104=
ENST00000329667.7:n.261A>G
ENST00000360525.8:c.312A>G ENSP00000353719.3:p.Gln104=
ENST00000399098.5:c.234A>G ENSP00000382049.1:p.Gln78=
ENST00000399102.5:c.312A>G ENSP00000382053.1:p.Gln104=
ENST00000399103.5:c.312A>G ENSP00000382054.1:p.Gln104=
ENST00000464265.5:c.384A>G ENSP00000420037.1:p.Gln128=
NM_153681.2:c.384A>G NP_710148.1:p.Gln128=
NM_153682.2:c.312A>G NP_710149.1:p.Gln104=
NR_028352.1:n.659A>G
XM_005260990.3:c.312A>G XP_005261047.1:p.Gln104=
XM_011529595.1:c.312A>G XP_011527897.1:p.Gln104=
XM_011529596.1:c.312A>G XP_011527898.1:p.Gln104=
NM_001320480.1:c.312A>G NP_001307409.1:p.Gln104=
NM_016430.3:c.234A>G NP_057514.2:p.Gln78=
XM_017028365.1:c.234A>G XP_016883854.1:p.Gln78=
NM_001320480.2:c.312A>G NP_001307409.1:p.Gln104=
NM_016430.4:c.234A>G NP_057514.2:p.Gln78=
NM_153682.3:c.312A>G MANE Select NP_710149.1:p.Gln104=