Canonical Allele Identifier: CA6383062
Community Standard Title: NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.885872C>G , CM000674.2:g.885872C>G GRCh38
NC_000012.11:g.995038C>G , CM000674.1:g.995038C>G GRCh37
NC_000012.10:g.865299C>G NCBI36
NG_007984.2:g.137814C>G
NG_007984.3:g.137814C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5068C>G MANE Select NP_061852.3:p.Pro1690Ala
ENST00000315939.11:c.5068C>G MANE Select ENSP00000313059.6:p.Pro1690Ala
NM_213655.5:c.5824C>G MANE Plus Clinical NP_998820.3:p.Pro1942Ala
ENST00000340908.9:c.5824C>G MANE Plus Clinical ENSP00000341292.5:p.Pro1942Ala
NM_001184985.1:c.5848C>G NP_001171914.1:p.Pro1950Ala
NM_001184985.2:c.5848C>G NP_001171914.1:p.Pro1950Ala
NM_014823.2:c.4327C>G NP_055638.2:p.Pro1443Ala
NM_014823.3:c.4327C>G NP_055638.2:p.Pro1443Ala
NM_018979.3:c.5068C>G NP_061852.3:p.Pro1690Ala
NM_213655.4:c.5824C>G NP_998820.3:p.Pro1942Ala
ENST00000315939.10:c.5068C>G ENSP00000313059.6:p.Pro1690Ala
ENST00000340908.8:c.5824C>G ENSP00000341292.5:p.Pro1942Ala
ENST00000530271.6:c.6307C>G ENSP00000433548.3:p.Pro2103Ala
ENST00000535572.5:c.4327C>G ENSP00000441972.1:p.Pro1443Ala
ENST00000537687.5:c.5848C>G ENSP00000444465.1:p.Pro1950Ala
ENST00000675631.1:c.3847C>G ENSP00000502415.1:p.Pro1283Ala
ENST00000676347.1:c.2515C>G ENSP00000501875.1:p.Pro839Ala
XM_006719003.1:c.5065C>G XP_006719066.1:p.Pro1689Ala
XM_006719003.2:c.5065C>G XP_006719066.1:p.Pro1689Ala
XM_011520997.1:c.6307C>G XP_011519299.1:p.Pro2103Ala
XM_011520997.3:c.6307C>G XP_011519299.1:p.Pro2103Ala
XM_011520998.1:c.6304C>G XP_011519300.1:p.Pro2102Ala
XM_011520998.2:c.6304C>G XP_011519300.1:p.Pro2102Ala
XM_011520999.1:c.6307C>G XP_011519301.1:p.Pro2103Ala
XM_011520999.2:c.6307C>G XP_011519301.1:p.Pro2103Ala
XM_011521000.1:c.6307C>G XP_011519302.1:p.Pro2103Ala
XM_011521000.2:c.6307C>G XP_011519302.1:p.Pro2103Ala
XM_011521001.1:c.6028C>G XP_011519303.1:p.Pro2010Ala
XM_011521001.2:c.6028C>G XP_011519303.1:p.Pro2010Ala
XM_011521002.1:c.5845C>G XP_011519304.1:p.Pro1949Ala
XM_011521002.2:c.5845C>G XP_011519304.1:p.Pro1949Ala
XM_011521003.1:c.5569C>G XP_011519305.1:p.Pro1857Ala
XM_011521003.2:c.5569C>G XP_011519305.1:p.Pro1857Ala
XM_011521004.1:c.5566C>G XP_011519306.1:p.Pro1856Ala
XM_011521004.2:c.5566C>G XP_011519306.1:p.Pro1856Ala
XM_011521005.1:c.5086C>G XP_011519307.1:p.Pro1696Ala
XM_011521005.2:c.5086C>G XP_011519307.1:p.Pro1696Ala
XM_011521006.1:c.4984C>G XP_011519308.1:p.Pro1662Ala
XM_011521006.2:c.4984C>G XP_011519308.1:p.Pro1662Ala
XM_011521007.1:c.4981C>G XP_011519309.1:p.Pro1661Ala
XM_011521007.2:c.4981C>G XP_011519309.1:p.Pro1661Ala
XM_011521008.1:c.4246C>G XP_011519310.1:p.Pro1416Ala
XM_011521008.2:c.4246C>G XP_011519310.1:p.Pro1416Ala
XM_011521009.1:c.4243C>G XP_011519311.1:p.Pro1415Ala
XM_011521009.2:c.4243C>G XP_011519311.1:p.Pro1415Ala
XM_017019834.1:c.4606C>G XP_016875323.1:p.Pro1536Ala
XM_017019835.1:c.4525C>G XP_016875324.1:p.Pro1509Ala
XM_017019836.1:c.4522C>G XP_016875325.1:p.Pro1508Ala
XM_017019837.1:c.4330C>G XP_016875326.1:p.Pro1444Ala
XM_017019838.1:c.4327C>G XP_016875327.1:p.Pro1443Ala
XM_017019839.1:c.4246C>G XP_016875328.1:p.Pro1416Ala