Canonical Allele Identifier: CA6383260
Community Standard Title: NM_018979.4(WNK1):c.5638G>A (p.Ala1880Thr)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.896125G>A , CM000674.2:g.896125G>A GRCh38
NC_000012.11:g.1005291G>A , CM000674.1:g.1005291G>A GRCh37
NC_000012.10:g.875552G>A NCBI36
NG_007984.2:g.148067G>A
NG_007984.3:g.148067G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5638G>A MANE Select NP_061852.3:p.Ala1880Thr
ENST00000315939.11:c.5638G>A MANE Select ENSP00000313059.6:p.Ala1880Thr
NM_213655.5:c.6394G>A MANE Plus Clinical NP_998820.3:p.Ala2132Thr
ENST00000340908.9:c.6394G>A MANE Plus Clinical ENSP00000341292.5:p.Ala2132Thr
NM_001184985.1:c.6418G>A NP_001171914.1:p.Ala2140Thr
NM_001184985.2:c.6418G>A NP_001171914.1:p.Ala2140Thr
NM_014823.2:c.4894G>A NP_055638.2:p.Ala1632Thr
NM_014823.3:c.4894G>A NP_055638.2:p.Ala1632Thr
NM_018979.3:c.5638G>A NP_061852.3:p.Ala1880Thr
NM_213655.4:c.6394G>A NP_998820.3:p.Ala2132Thr
ENST00000315939.10:c.5638G>A ENSP00000313059.6:p.Ala1880Thr
ENST00000340908.8:c.6394G>A ENSP00000341292.5:p.Ala2132Thr
ENST00000530271.6:c.6877G>A ENSP00000433548.3:p.Ala2293Thr
ENST00000535572.5:c.4894G>A ENSP00000441972.1:p.Ala1632Thr
ENST00000537687.5:c.6418G>A ENSP00000444465.1:p.Ala2140Thr
ENST00000675631.1:c.4417G>A ENSP00000502415.1:p.Ala1473Thr
ENST00000676347.1:c.3085G>A ENSP00000501875.1:p.Ala1029Thr
XM_006719003.1:c.5635G>A XP_006719066.1:p.Ala1879Thr
XM_006719003.2:c.5635G>A XP_006719066.1:p.Ala1879Thr
XM_011520997.1:c.6877G>A XP_011519299.1:p.Ala2293Thr
XM_011520997.3:c.6877G>A XP_011519299.1:p.Ala2293Thr
XM_011520998.1:c.6874G>A XP_011519300.1:p.Ala2292Thr
XM_011520998.2:c.6874G>A XP_011519300.1:p.Ala2292Thr
XM_011520999.1:c.6874G>A XP_011519301.1:p.Ala2292Thr
XM_011520999.2:c.6874G>A XP_011519301.1:p.Ala2292Thr
XM_011521000.1:c.6877G>A XP_011519302.1:p.Ala2293Thr
XM_011521000.2:c.6877G>A XP_011519302.1:p.Ala2293Thr
XM_011521001.1:c.6598G>A XP_011519303.1:p.Ala2200Thr
XM_011521001.2:c.6598G>A XP_011519303.1:p.Ala2200Thr
XM_011521002.1:c.6415G>A XP_011519304.1:p.Ala2139Thr
XM_011521002.2:c.6415G>A XP_011519304.1:p.Ala2139Thr
XM_011521003.1:c.6139G>A XP_011519305.1:p.Ala2047Thr
XM_011521003.2:c.6139G>A XP_011519305.1:p.Ala2047Thr
XM_011521004.1:c.6136G>A XP_011519306.1:p.Ala2046Thr
XM_011521004.2:c.6136G>A XP_011519306.1:p.Ala2046Thr
XM_011521005.1:c.5656G>A XP_011519307.1:p.Ala1886Thr
XM_011521005.2:c.5656G>A XP_011519307.1:p.Ala1886Thr
XM_011521006.1:c.5554G>A XP_011519308.1:p.Ala1852Thr
XM_011521006.2:c.5554G>A XP_011519308.1:p.Ala1852Thr
XM_011521007.1:c.5551G>A XP_011519309.1:p.Ala1851Thr
XM_011521007.2:c.5551G>A XP_011519309.1:p.Ala1851Thr
XM_011521008.1:c.4816G>A XP_011519310.1:p.Ala1606Thr
XM_011521008.2:c.4816G>A XP_011519310.1:p.Ala1606Thr
XM_011521009.1:c.4813G>A XP_011519311.1:p.Ala1605Thr
XM_011521009.2:c.4813G>A XP_011519311.1:p.Ala1605Thr
XM_017019834.1:c.5176G>A XP_016875323.1:p.Ala1726Thr
XM_017019835.1:c.5095G>A XP_016875324.1:p.Ala1699Thr
XM_017019836.1:c.5092G>A XP_016875325.1:p.Ala1698Thr
XM_017019837.1:c.4900G>A XP_016875326.1:p.Ala1634Thr
XM_017019838.1:c.4897G>A XP_016875327.1:p.Ala1633Thr
XM_017019839.1:c.4816G>A XP_016875328.1:p.Ala1606Thr