Canonical Allele Identifier: CA4666296
Community Standard Title: NM_018068.5(PIWIL2):c.380C>T (p.Ala127Val)
Gene: PIWIL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22281470C>T , CM000670.2:g.22281470C>T GRCh38
NC_000008.10:g.22138983C>T , CM000670.1:g.22138983C>T GRCh37
NC_000008.9:g.22194928C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018068.5:c.380C>T MANE Select NP_060538.2:p.Ala127Val
ENST00000356766.11:c.380C>T MANE Select ENSP00000349208.6:p.Ala127Val
NM_001135721.1:c.380C>T NP_001129193.1:p.Ala127Val
NM_001135721.2:c.380C>T NP_001129193.1:p.Ala127Val
NM_001135721.3:c.380C>T NP_001129193.1:p.Ala127Val
NM_001330480.1:c.380C>T NP_001317409.1:p.Ala127Val
NM_001330480.2:c.380C>T NP_001317409.1:p.Ala127Val
NM_018068.3:c.380C>T NP_060538.2:p.Ala127Val
NM_018068.4:c.380C>T NP_060538.2:p.Ala127Val
ENST00000356766.10:c.380C>T ENSP00000349208.6:p.Ala127Val
ENST00000454009.6:c.380C>T ENSP00000406956.2:p.Ala127Val
ENST00000521356.5:c.380C>T ENSP00000428267.1:p.Ala127Val
ENST00000611073.1:c.380C>T ENSP00000478103.1:p.Ala127Val
XM_005273550.3:c.380C>T XP_005273607.1:p.Ala127Val
XM_005273551.2:c.380C>T XP_005273608.1:p.Ala127Val
XM_005273551.4:c.380C>T XP_005273608.1:p.Ala127Val