Canonical Allele Identifier: CA6383204
Community Standard Title: NM_018979.4(WNK1):c.5491A>G (p.Thr1831Ala)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.890495A>G , CM000674.2:g.890495A>G GRCh38
NC_000012.11:g.999661A>G , CM000674.1:g.999661A>G GRCh37
NC_000012.10:g.869922A>G NCBI36
NG_007984.2:g.142437A>G
NG_007984.3:g.142437A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5491A>G MANE Select NP_061852.3:p.Thr1831Ala
ENST00000315939.11:c.5491A>G MANE Select ENSP00000313059.6:p.Thr1831Ala
NM_213655.5:c.6247A>G MANE Plus Clinical NP_998820.3:p.Thr2083Ala
ENST00000340908.9:c.6247A>G MANE Plus Clinical ENSP00000341292.5:p.Thr2083Ala
NM_001184985.1:c.6271A>G NP_001171914.1:p.Thr2091Ala
NM_001184985.2:c.6271A>G NP_001171914.1:p.Thr2091Ala
NM_014823.2:c.4750A>G NP_055638.2:p.Thr1584Ala
NM_014823.3:c.4750A>G NP_055638.2:p.Thr1584Ala
NM_018979.3:c.5491A>G NP_061852.3:p.Thr1831Ala
NM_213655.4:c.6247A>G NP_998820.3:p.Thr2083Ala
ENST00000315939.10:c.5491A>G ENSP00000313059.6:p.Thr1831Ala
ENST00000340908.8:c.6247A>G ENSP00000341292.5:p.Thr2083Ala
ENST00000530271.6:c.6730A>G ENSP00000433548.3:p.Thr2244Ala
ENST00000535572.5:c.4750A>G ENSP00000441972.1:p.Thr1584Ala
ENST00000537687.5:c.6271A>G ENSP00000444465.1:p.Thr2091Ala
ENST00000675631.1:c.4270A>G ENSP00000502415.1:p.Thr1424Ala
ENST00000676347.1:c.2938A>G ENSP00000501875.1:p.Thr980Ala
XM_006719003.1:c.5488A>G XP_006719066.1:p.Thr1830Ala
XM_006719003.2:c.5488A>G XP_006719066.1:p.Thr1830Ala
XM_011520997.1:c.6730A>G XP_011519299.1:p.Thr2244Ala
XM_011520997.3:c.6730A>G XP_011519299.1:p.Thr2244Ala
XM_011520998.1:c.6727A>G XP_011519300.1:p.Thr2243Ala
XM_011520998.2:c.6727A>G XP_011519300.1:p.Thr2243Ala
XM_011520999.1:c.6730A>G XP_011519301.1:p.Thr2244Ala
XM_011520999.2:c.6730A>G XP_011519301.1:p.Thr2244Ala
XM_011521000.1:c.6730A>G XP_011519302.1:p.Thr2244Ala
XM_011521000.2:c.6730A>G XP_011519302.1:p.Thr2244Ala
XM_011521001.1:c.6451A>G XP_011519303.1:p.Thr2151Ala
XM_011521001.2:c.6451A>G XP_011519303.1:p.Thr2151Ala
XM_011521002.1:c.6268A>G XP_011519304.1:p.Thr2090Ala
XM_011521002.2:c.6268A>G XP_011519304.1:p.Thr2090Ala
XM_011521003.1:c.5992A>G XP_011519305.1:p.Thr1998Ala
XM_011521003.2:c.5992A>G XP_011519305.1:p.Thr1998Ala
XM_011521004.1:c.5989A>G XP_011519306.1:p.Thr1997Ala
XM_011521004.2:c.5989A>G XP_011519306.1:p.Thr1997Ala
XM_011521005.1:c.5509A>G XP_011519307.1:p.Thr1837Ala
XM_011521005.2:c.5509A>G XP_011519307.1:p.Thr1837Ala
XM_011521006.1:c.5407A>G XP_011519308.1:p.Thr1803Ala
XM_011521006.2:c.5407A>G XP_011519308.1:p.Thr1803Ala
XM_011521007.1:c.5404A>G XP_011519309.1:p.Thr1802Ala
XM_011521007.2:c.5404A>G XP_011519309.1:p.Thr1802Ala
XM_011521008.1:c.4669A>G XP_011519310.1:p.Thr1557Ala
XM_011521008.2:c.4669A>G XP_011519310.1:p.Thr1557Ala
XM_011521009.1:c.4666A>G XP_011519311.1:p.Thr1556Ala
XM_011521009.2:c.4666A>G XP_011519311.1:p.Thr1556Ala
XM_017019834.1:c.5029A>G XP_016875323.1:p.Thr1677Ala
XM_017019835.1:c.4948A>G XP_016875324.1:p.Thr1650Ala
XM_017019836.1:c.4945A>G XP_016875325.1:p.Thr1649Ala
XM_017019837.1:c.4753A>G XP_016875326.1:p.Thr1585Ala
XM_017019838.1:c.4750A>G XP_016875327.1:p.Thr1584Ala
XM_017019839.1:c.4669A>G XP_016875328.1:p.Thr1557Ala