Canonical Allele Identifier: CA6382924
Community Standard Title: NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.884939A>G , CM000674.2:g.884939A>G GRCh38
NC_000012.11:g.994105A>G , CM000674.1:g.994105A>G GRCh37
NC_000012.10:g.864366A>G NCBI36
NG_007984.2:g.136881A>G
NG_007984.3:g.136881A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.4135A>G MANE Select NP_061852.3:p.Thr1379Ala
ENST00000315939.11:c.4135A>G MANE Select ENSP00000313059.6:p.Thr1379Ala
NM_213655.5:c.4891A>G MANE Plus Clinical NP_998820.3:p.Thr1631Ala
ENST00000340908.9:c.4891A>G MANE Plus Clinical ENSP00000341292.5:p.Thr1631Ala
NM_001184985.1:c.4915A>G NP_001171914.1:p.Thr1639Ala
NM_001184985.2:c.4915A>G NP_001171914.1:p.Thr1639Ala
NM_014823.2:c.3394A>G NP_055638.2:p.Thr1132Ala
NM_014823.3:c.3394A>G NP_055638.2:p.Thr1132Ala
NM_018979.3:c.4135A>G NP_061852.3:p.Thr1379Ala
NM_213655.4:c.4891A>G NP_998820.3:p.Thr1631Ala
ENST00000315939.10:c.4135A>G ENSP00000313059.6:p.Thr1379Ala
ENST00000340908.8:c.4891A>G ENSP00000341292.5:p.Thr1631Ala
ENST00000530271.6:c.5374A>G ENSP00000433548.3:p.Thr1792Ala
ENST00000535572.5:c.3394A>G ENSP00000441972.1:p.Thr1132Ala
ENST00000537687.5:c.4915A>G ENSP00000444465.1:p.Thr1639Ala
ENST00000674810.1:n.4732A>G
ENST00000675236.1:n.3030A>G
ENST00000675631.1:c.2914A>G ENSP00000502415.1:p.Thr972Ala
ENST00000676347.1:c.1582A>G ENSP00000501875.1:p.Thr528Ala
XM_006719003.1:c.4132A>G XP_006719066.1:p.Thr1378Ala
XM_006719003.2:c.4132A>G XP_006719066.1:p.Thr1378Ala
XM_011520997.1:c.5374A>G XP_011519299.1:p.Thr1792Ala
XM_011520997.3:c.5374A>G XP_011519299.1:p.Thr1792Ala
XM_011520998.1:c.5371A>G XP_011519300.1:p.Thr1791Ala
XM_011520998.2:c.5371A>G XP_011519300.1:p.Thr1791Ala
XM_011520999.1:c.5374A>G XP_011519301.1:p.Thr1792Ala
XM_011520999.2:c.5374A>G XP_011519301.1:p.Thr1792Ala
XM_011521000.1:c.5374A>G XP_011519302.1:p.Thr1792Ala
XM_011521000.2:c.5374A>G XP_011519302.1:p.Thr1792Ala
XM_011521001.1:c.5095A>G XP_011519303.1:p.Thr1699Ala
XM_011521001.2:c.5095A>G XP_011519303.1:p.Thr1699Ala
XM_011521002.1:c.4912A>G XP_011519304.1:p.Thr1638Ala
XM_011521002.2:c.4912A>G XP_011519304.1:p.Thr1638Ala
XM_011521003.1:c.4636A>G XP_011519305.1:p.Thr1546Ala
XM_011521003.2:c.4636A>G XP_011519305.1:p.Thr1546Ala
XM_011521004.1:c.4633A>G XP_011519306.1:p.Thr1545Ala
XM_011521004.2:c.4633A>G XP_011519306.1:p.Thr1545Ala
XM_011521005.1:c.4153A>G XP_011519307.1:p.Thr1385Ala
XM_011521005.2:c.4153A>G XP_011519307.1:p.Thr1385Ala
XM_011521006.1:c.4051A>G XP_011519308.1:p.Thr1351Ala
XM_011521006.2:c.4051A>G XP_011519308.1:p.Thr1351Ala
XM_011521007.1:c.4048A>G XP_011519309.1:p.Thr1350Ala
XM_011521007.2:c.4048A>G XP_011519309.1:p.Thr1350Ala
XM_011521008.1:c.3313A>G XP_011519310.1:p.Thr1105Ala
XM_011521008.2:c.3313A>G XP_011519310.1:p.Thr1105Ala
XM_011521009.1:c.3310A>G XP_011519311.1:p.Thr1104Ala
XM_011521009.2:c.3310A>G XP_011519311.1:p.Thr1104Ala
XM_017019834.1:c.3673A>G XP_016875323.1:p.Thr1225Ala
XM_017019835.1:c.3592A>G XP_016875324.1:p.Thr1198Ala
XM_017019836.1:c.3589A>G XP_016875325.1:p.Thr1197Ala
XM_017019837.1:c.3397A>G XP_016875326.1:p.Thr1133Ala
XM_017019838.1:c.3394A>G XP_016875327.1:p.Thr1132Ala
XM_017019839.1:c.3313A>G XP_016875328.1:p.Thr1105Ala