Canonical Allele Identifier: CA383334986

Gene: WNK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.896221A>T , CM000674.2:g.896221A>T	GRCh38
NC_000012.11:g.1005387A>T , CM000674.1:g.1005387A>T	GRCh37
NC_000012.10:g.875648A>T	NCBI36
NG_007984.2:g.148163A>T
NG_007984.3:g.148163A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018979.4:c.5734A>T MANE Select	NP_061852.3:p.Ile1912Leu
ENST00000315939.11:c.5734A>T MANE Select	ENSP00000313059.6:p.Ile1912Leu
NM_213655.5:c.6490A>T MANE Plus Clinical	NP_998820.3:p.Ile2164Leu
ENST00000340908.9:c.6490A>T MANE Plus Clinical	ENSP00000341292.5:p.Ile2164Leu
NM_001184985.1:c.6514A>T	NP_001171914.1:p.Ile2172Leu
NM_001184985.2:c.6514A>T	NP_001171914.1:p.Ile2172Leu
NM_014823.2:c.4990A>T	NP_055638.2:p.Ile1664Leu
NM_014823.3:c.4990A>T	NP_055638.2:p.Ile1664Leu
NM_018979.3:c.5734A>T	NP_061852.3:p.Ile1912Leu
NM_213655.4:c.6490A>T	NP_998820.3:p.Ile2164Leu
ENST00000315939.10:c.5734A>T	ENSP00000313059.6:p.Ile1912Leu
ENST00000340908.8:c.6490A>T	ENSP00000341292.5:p.Ile2164Leu
ENST00000530271.6:c.6973A>T	ENSP00000433548.3:p.Ile2325Leu
ENST00000535572.5:c.4990A>T	ENSP00000441972.1:p.Ile1664Leu
ENST00000537687.5:c.6514A>T	ENSP00000444465.1:p.Ile2172Leu
ENST00000675631.1:c.4513A>T	ENSP00000502415.1:p.Ile1505Leu
ENST00000676347.1:c.3181A>T	ENSP00000501875.1:p.Ile1061Leu
XM_006719003.1:c.5731A>T	XP_006719066.1:p.Ile1911Leu
XM_006719003.2:c.5731A>T	XP_006719066.1:p.Ile1911Leu
XM_011520997.1:c.6973A>T	XP_011519299.1:p.Ile2325Leu
XM_011520997.3:c.6973A>T	XP_011519299.1:p.Ile2325Leu
XM_011520998.1:c.6970A>T	XP_011519300.1:p.Ile2324Leu
XM_011520998.2:c.6970A>T	XP_011519300.1:p.Ile2324Leu
XM_011520999.1:c.6970A>T	XP_011519301.1:p.Ile2324Leu
XM_011520999.2:c.6970A>T	XP_011519301.1:p.Ile2324Leu
XM_011521000.1:c.6973A>T	XP_011519302.1:p.Ile2325Leu
XM_011521000.2:c.6973A>T	XP_011519302.1:p.Ile2325Leu
XM_011521001.1:c.6694A>T	XP_011519303.1:p.Ile2232Leu
XM_011521001.2:c.6694A>T	XP_011519303.1:p.Ile2232Leu
XM_011521002.1:c.6511A>T	XP_011519304.1:p.Ile2171Leu
XM_011521002.2:c.6511A>T	XP_011519304.1:p.Ile2171Leu
XM_011521003.1:c.6235A>T	XP_011519305.1:p.Ile2079Leu
XM_011521003.2:c.6235A>T	XP_011519305.1:p.Ile2079Leu
XM_011521004.1:c.6232A>T	XP_011519306.1:p.Ile2078Leu
XM_011521004.2:c.6232A>T	XP_011519306.1:p.Ile2078Leu
XM_011521005.1:c.5752A>T	XP_011519307.1:p.Ile1918Leu
XM_011521005.2:c.5752A>T	XP_011519307.1:p.Ile1918Leu
XM_011521006.1:c.5650A>T	XP_011519308.1:p.Ile1884Leu
XM_011521006.2:c.5650A>T	XP_011519308.1:p.Ile1884Leu
XM_011521007.1:c.5647A>T	XP_011519309.1:p.Ile1883Leu
XM_011521007.2:c.5647A>T	XP_011519309.1:p.Ile1883Leu
XM_011521008.1:c.4912A>T	XP_011519310.1:p.Ile1638Leu
XM_011521008.2:c.4912A>T	XP_011519310.1:p.Ile1638Leu
XM_011521009.1:c.4909A>T	XP_011519311.1:p.Ile1637Leu
XM_011521009.2:c.4909A>T	XP_011519311.1:p.Ile1637Leu
XM_017019834.1:c.5272A>T	XP_016875323.1:p.Ile1758Leu
XM_017019835.1:c.5191A>T	XP_016875324.1:p.Ile1731Leu
XM_017019836.1:c.5188A>T	XP_016875325.1:p.Ile1730Leu
XM_017019837.1:c.4996A>T	XP_016875326.1:p.Ile1666Leu
XM_017019838.1:c.4993A>T	XP_016875327.1:p.Ile1665Leu
XM_017019839.1:c.4912A>T	XP_016875328.1:p.Ile1638Leu