Canonical Allele Identifier: CA375002137
Community Standard Title: NM_001131016.2(CIZ1):c.379A>G (p.Met127Val)
Gene: CIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128185756T>C , CM000671.2:g.128185756T>C GRCh38
NC_000009.11:g.130948035T>C , CM000671.1:g.130948035T>C GRCh37
NC_000009.10:g.129987856T>C NCBI36
NG_032983.1:g.23628A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001131016.2:c.379A>G MANE Select NP_001124488.1:p.Met127Val
ENST00000372938.10:c.379A>G MANE Select ENSP00000362029.5:p.Met127Val
NM_001131015.1:c.379A>G NP_001124487.1:p.Met127Val
NM_001131015.2:c.379A>G NP_001124487.1:p.Met127Val
NM_001131016.1:c.379A>G NP_001124488.1:p.Met127Val
NM_001131017.1:c.379A>G NP_001124489.1:p.Met127Val
NM_001131017.2:c.379A>G NP_001124489.1:p.Met127Val
NM_001131018.1:c.307A>G NP_001124490.1:p.Met103Val
NM_001131018.2:c.307A>G NP_001124490.1:p.Met103Val
NM_001257975.1:c.469A>G NP_001244904.1:p.Met157Val
NM_001257975.2:c.469A>G NP_001244904.1:p.Met157Val
NM_001257976.1:c.76A>G NP_001244905.1:p.Met26Val
NM_001257976.2:c.76A>G NP_001244905.1:p.Met26Val
NM_012127.2:c.379A>G NP_036259.2:p.Met127Val
NM_012127.3:c.379A>G NP_036259.2:p.Met127Val
ENST00000277465.8:c.379A>G ENSP00000277465.4:p.Met127Val
ENST00000324544.6:c.379A>G ENSP00000321780.2:p.Met127Val
ENST00000357558.9:c.379A>G ENSP00000350169.7:p.Met127Val
ENST00000372938.9:c.379A>G ENSP00000362029.5:p.Met127Val
ENST00000372948.7:c.379A>G ENSP00000362039.3:p.Met127Val
ENST00000372954.5:c.307A>G ENSP00000362045.1:p.Met103Val
ENST00000393608.5:c.280A>G ENSP00000377232.2:p.Met94Val
ENST00000415526.5:c.160A>G ENSP00000398011.1:p.Met54Val
ENST00000420484.2:c.379A>G ENSP00000407265.1:p.Met127Val
ENST00000467178.5:n.417+4573A>G
ENST00000474442.1:n.232A>G
ENST00000476727.6:n.278A>G
ENST00000488559.6:n.197-22A>G
ENST00000491954.5:n.356A>G
ENST00000498156.5:n.192A>G
ENST00000538431.5:c.469A>G ENSP00000439244.2:p.Met157Val
ENST00000629610.2:c.76A>G ENSP00000486816.1:p.Met26Val
ENST00000634901.1:c.379A>G ENSP00000489425.1:p.Met127Val
ENST00000651955.1:c.379A>G ENSP00000498625.1:p.Met127Val
XM_005251888.3:c.379A>G XP_005251945.2:p.Met127Val
XM_005251888.4:c.475A>G XP_005251945.3:p.Met159Val
XM_005251891.3:c.379A>G XP_005251948.2:p.Met127Val
XM_005251891.4:c.475A>G XP_005251948.3:p.Met159Val
XM_005251892.3:c.379A>G XP_005251949.2:p.Met127Val
XM_005251892.4:c.475A>G XP_005251949.3:p.Met159Val
XM_005251893.3:c.391A>G XP_005251950.3:p.Met131Val
XM_005251893.4:c.307A>G XP_005251950.4:p.Met103Val
XM_006717037.2:c.379A>G XP_006717100.2:p.Met127Val
XM_006717039.2:c.403A>G XP_006717102.1:p.Met135Val
XM_006717039.3:c.307A>G XP_006717102.2:p.Met103Val
XM_011518481.1:c.379A>G XP_011516783.1:p.Met127Val
XM_011518481.2:c.475A>G XP_011516783.2:p.Met159Val
XM_011518482.1:c.391A>G XP_011516784.1:p.Met131Val
XM_011518482.2:c.307A>G XP_011516784.2:p.Met103Val
XM_011518483.1:c.307A>G XP_011516785.1:p.Met103Val
XM_017014594.2:c.469A>G XP_016870083.1:p.Met157Val
XM_017014595.2:c.379A>G XP_016870084.1:p.Met127Val
XM_017014596.2:c.379A>G XP_016870085.1:p.Met127Val
XM_024447494.1:c.436A>G XP_024303262.1:p.Met146Val
XM_024447496.1:c.379A>G XP_024303264.1:p.Met127Val
XM_024447497.1:c.379A>G XP_024303265.1:p.Met127Val