Canonical Allele Identifier: CA6383277

Gene: WNK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.896228T>C , CM000674.2:g.896228T>C	GRCh38
NC_000012.11:g.1005394T>C , CM000674.1:g.1005394T>C	GRCh37
NC_000012.10:g.875655T>C	NCBI36
NG_007984.2:g.148170T>C
NG_007984.3:g.148170T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018979.4:c.5741T>C MANE Select	NP_061852.3:p.Ile1914Thr
ENST00000315939.11:c.5741T>C MANE Select	ENSP00000313059.6:p.Ile1914Thr
NM_213655.5:c.6497T>C MANE Plus Clinical	NP_998820.3:p.Ile2166Thr
ENST00000340908.9:c.6497T>C MANE Plus Clinical	ENSP00000341292.5:p.Ile2166Thr
NM_001184985.1:c.6521T>C	NP_001171914.1:p.Ile2174Thr
NM_001184985.2:c.6521T>C	NP_001171914.1:p.Ile2174Thr
NM_014823.2:c.4997T>C	NP_055638.2:p.Ile1666Thr
NM_014823.3:c.4997T>C	NP_055638.2:p.Ile1666Thr
NM_018979.3:c.5741T>C	NP_061852.3:p.Ile1914Thr
NM_213655.4:c.6497T>C	NP_998820.3:p.Ile2166Thr
ENST00000315939.10:c.5741T>C	ENSP00000313059.6:p.Ile1914Thr
ENST00000340908.8:c.6497T>C	ENSP00000341292.5:p.Ile2166Thr
ENST00000530271.6:c.6980T>C	ENSP00000433548.3:p.Ile2327Thr
ENST00000535572.5:c.4997T>C	ENSP00000441972.1:p.Ile1666Thr
ENST00000537687.5:c.6521T>C	ENSP00000444465.1:p.Ile2174Thr
ENST00000675631.1:c.4520T>C	ENSP00000502415.1:p.Ile1507Thr
ENST00000676347.1:c.3188T>C	ENSP00000501875.1:p.Ile1063Thr
XM_006719003.1:c.5738T>C	XP_006719066.1:p.Ile1913Thr
XM_006719003.2:c.5738T>C	XP_006719066.1:p.Ile1913Thr
XM_011520997.1:c.6980T>C	XP_011519299.1:p.Ile2327Thr
XM_011520997.3:c.6980T>C	XP_011519299.1:p.Ile2327Thr
XM_011520998.1:c.6977T>C	XP_011519300.1:p.Ile2326Thr
XM_011520998.2:c.6977T>C	XP_011519300.1:p.Ile2326Thr
XM_011520999.1:c.6977T>C	XP_011519301.1:p.Ile2326Thr
XM_011520999.2:c.6977T>C	XP_011519301.1:p.Ile2326Thr
XM_011521000.1:c.6980T>C	XP_011519302.1:p.Ile2327Thr
XM_011521000.2:c.6980T>C	XP_011519302.1:p.Ile2327Thr
XM_011521001.1:c.6701T>C	XP_011519303.1:p.Ile2234Thr
XM_011521001.2:c.6701T>C	XP_011519303.1:p.Ile2234Thr
XM_011521002.1:c.6518T>C	XP_011519304.1:p.Ile2173Thr
XM_011521002.2:c.6518T>C	XP_011519304.1:p.Ile2173Thr
XM_011521003.1:c.6242T>C	XP_011519305.1:p.Ile2081Thr
XM_011521003.2:c.6242T>C	XP_011519305.1:p.Ile2081Thr
XM_011521004.1:c.6239T>C	XP_011519306.1:p.Ile2080Thr
XM_011521004.2:c.6239T>C	XP_011519306.1:p.Ile2080Thr
XM_011521005.1:c.5759T>C	XP_011519307.1:p.Ile1920Thr
XM_011521005.2:c.5759T>C	XP_011519307.1:p.Ile1920Thr
XM_011521006.1:c.5657T>C	XP_011519308.1:p.Ile1886Thr
XM_011521006.2:c.5657T>C	XP_011519308.1:p.Ile1886Thr
XM_011521007.1:c.5654T>C	XP_011519309.1:p.Ile1885Thr
XM_011521007.2:c.5654T>C	XP_011519309.1:p.Ile1885Thr
XM_011521008.1:c.4919T>C	XP_011519310.1:p.Ile1640Thr
XM_011521008.2:c.4919T>C	XP_011519310.1:p.Ile1640Thr
XM_011521009.1:c.4916T>C	XP_011519311.1:p.Ile1639Thr
XM_011521009.2:c.4916T>C	XP_011519311.1:p.Ile1639Thr
XM_017019834.1:c.5279T>C	XP_016875323.1:p.Ile1760Thr
XM_017019835.1:c.5198T>C	XP_016875324.1:p.Ile1733Thr
XM_017019836.1:c.5195T>C	XP_016875325.1:p.Ile1732Thr
XM_017019837.1:c.5003T>C	XP_016875326.1:p.Ile1668Thr
XM_017019838.1:c.5000T>C	XP_016875327.1:p.Ile1667Thr
XM_017019839.1:c.4919T>C	XP_016875328.1:p.Ile1640Thr