Canonical Allele Identifier: CA6383064
Community Standard Title: NM_018979.4(WNK1):c.5086G>A (p.Ala1696Thr)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.885890G>A , CM000674.2:g.885890G>A GRCh38
NC_000012.11:g.995056G>A , CM000674.1:g.995056G>A GRCh37
NC_000012.10:g.865317G>A NCBI36
NG_007984.2:g.137832G>A
NG_007984.3:g.137832G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5086G>A MANE Select NP_061852.3:p.Ala1696Thr
ENST00000315939.11:c.5086G>A MANE Select ENSP00000313059.6:p.Ala1696Thr
NM_213655.5:c.5842G>A MANE Plus Clinical NP_998820.3:p.Ala1948Thr
ENST00000340908.9:c.5842G>A MANE Plus Clinical ENSP00000341292.5:p.Ala1948Thr
NM_001184985.1:c.5866G>A NP_001171914.1:p.Ala1956Thr
NM_001184985.2:c.5866G>A NP_001171914.1:p.Ala1956Thr
NM_014823.2:c.4345G>A NP_055638.2:p.Ala1449Thr
NM_014823.3:c.4345G>A NP_055638.2:p.Ala1449Thr
NM_018979.3:c.5086G>A NP_061852.3:p.Ala1696Thr
NM_213655.4:c.5842G>A NP_998820.3:p.Ala1948Thr
ENST00000315939.10:c.5086G>A ENSP00000313059.6:p.Ala1696Thr
ENST00000340908.8:c.5842G>A ENSP00000341292.5:p.Ala1948Thr
ENST00000530271.6:c.6325G>A ENSP00000433548.3:p.Ala2109Thr
ENST00000535572.5:c.4345G>A ENSP00000441972.1:p.Ala1449Thr
ENST00000537687.5:c.5866G>A ENSP00000444465.1:p.Ala1956Thr
ENST00000675631.1:c.3865G>A ENSP00000502415.1:p.Ala1289Thr
ENST00000676347.1:c.2533G>A ENSP00000501875.1:p.Ala845Thr
XM_006719003.1:c.5083G>A XP_006719066.1:p.Ala1695Thr
XM_006719003.2:c.5083G>A XP_006719066.1:p.Ala1695Thr
XM_011520997.1:c.6325G>A XP_011519299.1:p.Ala2109Thr
XM_011520997.3:c.6325G>A XP_011519299.1:p.Ala2109Thr
XM_011520998.1:c.6322G>A XP_011519300.1:p.Ala2108Thr
XM_011520998.2:c.6322G>A XP_011519300.1:p.Ala2108Thr
XM_011520999.1:c.6325G>A XP_011519301.1:p.Ala2109Thr
XM_011520999.2:c.6325G>A XP_011519301.1:p.Ala2109Thr
XM_011521000.1:c.6325G>A XP_011519302.1:p.Ala2109Thr
XM_011521000.2:c.6325G>A XP_011519302.1:p.Ala2109Thr
XM_011521001.1:c.6046G>A XP_011519303.1:p.Ala2016Thr
XM_011521001.2:c.6046G>A XP_011519303.1:p.Ala2016Thr
XM_011521002.1:c.5863G>A XP_011519304.1:p.Ala1955Thr
XM_011521002.2:c.5863G>A XP_011519304.1:p.Ala1955Thr
XM_011521003.1:c.5587G>A XP_011519305.1:p.Ala1863Thr
XM_011521003.2:c.5587G>A XP_011519305.1:p.Ala1863Thr
XM_011521004.1:c.5584G>A XP_011519306.1:p.Ala1862Thr
XM_011521004.2:c.5584G>A XP_011519306.1:p.Ala1862Thr
XM_011521005.1:c.5104G>A XP_011519307.1:p.Ala1702Thr
XM_011521005.2:c.5104G>A XP_011519307.1:p.Ala1702Thr
XM_011521006.1:c.5002G>A XP_011519308.1:p.Ala1668Thr
XM_011521006.2:c.5002G>A XP_011519308.1:p.Ala1668Thr
XM_011521007.1:c.4999G>A XP_011519309.1:p.Ala1667Thr
XM_011521007.2:c.4999G>A XP_011519309.1:p.Ala1667Thr
XM_011521008.1:c.4264G>A XP_011519310.1:p.Ala1422Thr
XM_011521008.2:c.4264G>A XP_011519310.1:p.Ala1422Thr
XM_011521009.1:c.4261G>A XP_011519311.1:p.Ala1421Thr
XM_011521009.2:c.4261G>A XP_011519311.1:p.Ala1421Thr
XM_017019834.1:c.4624G>A XP_016875323.1:p.Ala1542Thr
XM_017019835.1:c.4543G>A XP_016875324.1:p.Ala1515Thr
XM_017019836.1:c.4540G>A XP_016875325.1:p.Ala1514Thr
XM_017019837.1:c.4348G>A XP_016875326.1:p.Ala1450Thr
XM_017019838.1:c.4345G>A XP_016875327.1:p.Ala1449Thr
XM_017019839.1:c.4264G>A XP_016875328.1:p.Ala1422Thr