Canonical Allele Identifier: CA383327629
Community Standard Title: NM_018979.4(WNK1):c.3166A>G (p.Thr1056Ala)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.881746A>G , CM000674.2:g.881746A>G GRCh38
NC_000012.11:g.990912A>G , CM000674.1:g.990912A>G GRCh37
NC_000012.10:g.861173A>G NCBI36
NG_007984.2:g.133688A>G
NG_007984.3:g.133688A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.3166A>G MANE Select NP_061852.3:p.Thr1056Ala
ENST00000315939.11:c.3166A>G MANE Select ENSP00000313059.6:p.Thr1056Ala
NM_213655.5:c.3922A>G MANE Plus Clinical NP_998820.3:p.Thr1308Ala
ENST00000340908.9:c.3922A>G MANE Plus Clinical ENSP00000341292.5:p.Thr1308Ala
NM_001184985.1:c.3946A>G NP_001171914.1:p.Thr1316Ala
NM_001184985.2:c.3946A>G NP_001171914.1:p.Thr1316Ala
NM_014823.2:c.2425A>G NP_055638.2:p.Thr809Ala
NM_014823.3:c.2425A>G NP_055638.2:p.Thr809Ala
NM_018979.3:c.3166A>G NP_061852.3:p.Thr1056Ala
NM_213655.4:c.3922A>G NP_998820.3:p.Thr1308Ala
ENST00000315939.10:c.3166A>G ENSP00000313059.6:p.Thr1056Ala
ENST00000340908.8:c.3922A>G ENSP00000341292.5:p.Thr1308Ala
ENST00000530271.6:c.4405A>G ENSP00000433548.3:p.Thr1469Ala
ENST00000535572.5:c.2425A>G ENSP00000441972.1:p.Thr809Ala
ENST00000537687.5:c.3946A>G ENSP00000444465.1:p.Thr1316Ala
ENST00000542543.1:n.402A>G
ENST00000544965.5:c.395A>G
ENST00000545055.1:n.276A>G
ENST00000674810.1:n.3763A>G
ENST00000675236.1:n.2061A>G
ENST00000675631.1:c.1945A>G ENSP00000502415.1:p.Thr649Ala
ENST00000676347.1:c.613A>G ENSP00000501875.1:p.Thr205Ala
XM_006719003.1:c.3163A>G XP_006719066.1:p.Thr1055Ala
XM_006719003.2:c.3163A>G XP_006719066.1:p.Thr1055Ala
XM_011520997.1:c.4405A>G XP_011519299.1:p.Thr1469Ala
XM_011520997.3:c.4405A>G XP_011519299.1:p.Thr1469Ala
XM_011520998.1:c.4402A>G XP_011519300.1:p.Thr1468Ala
XM_011520998.2:c.4402A>G XP_011519300.1:p.Thr1468Ala
XM_011520999.1:c.4405A>G XP_011519301.1:p.Thr1469Ala
XM_011520999.2:c.4405A>G XP_011519301.1:p.Thr1469Ala
XM_011521000.1:c.4405A>G XP_011519302.1:p.Thr1469Ala
XM_011521000.2:c.4405A>G XP_011519302.1:p.Thr1469Ala
XM_011521001.1:c.4126A>G XP_011519303.1:p.Thr1376Ala
XM_011521001.2:c.4126A>G XP_011519303.1:p.Thr1376Ala
XM_011521002.1:c.3943A>G XP_011519304.1:p.Thr1315Ala
XM_011521002.2:c.3943A>G XP_011519304.1:p.Thr1315Ala
XM_011521003.1:c.3667A>G XP_011519305.1:p.Thr1223Ala
XM_011521003.2:c.3667A>G XP_011519305.1:p.Thr1223Ala
XM_011521004.1:c.3664A>G XP_011519306.1:p.Thr1222Ala
XM_011521004.2:c.3664A>G XP_011519306.1:p.Thr1222Ala
XM_011521005.1:c.3184A>G XP_011519307.1:p.Thr1062Ala
XM_011521005.2:c.3184A>G XP_011519307.1:p.Thr1062Ala
XM_011521006.1:c.3082A>G XP_011519308.1:p.Thr1028Ala
XM_011521006.2:c.3082A>G XP_011519308.1:p.Thr1028Ala
XM_011521007.1:c.3079A>G XP_011519309.1:p.Thr1027Ala
XM_011521007.2:c.3079A>G XP_011519309.1:p.Thr1027Ala
XM_011521008.1:c.2344A>G XP_011519310.1:p.Thr782Ala
XM_011521008.2:c.2344A>G XP_011519310.1:p.Thr782Ala
XM_011521009.1:c.2341A>G XP_011519311.1:p.Thr781Ala
XM_011521009.2:c.2341A>G XP_011519311.1:p.Thr781Ala
XM_017019834.1:c.2704A>G XP_016875323.1:p.Thr902Ala
XM_017019835.1:c.2623A>G XP_016875324.1:p.Thr875Ala
XM_017019836.1:c.2620A>G XP_016875325.1:p.Thr874Ala
XM_017019837.1:c.2428A>G XP_016875326.1:p.Thr810Ala
XM_017019838.1:c.2425A>G XP_016875327.1:p.Thr809Ala
XM_017019839.1:c.2344A>G XP_016875328.1:p.Thr782Ala