Canonical Allele Identifier: CA10389961
Community Standard Title: NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys)
Gene: CASK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41520424T>C , CM000685.2:g.41520424T>C GRCh38
NC_000023.10:g.41379677T>C , CM000685.1:g.41379677T>C GRCh37
NC_000023.9:g.41264621T>C NCBI36
NG_016754.1:g.407611A>G
NG_016754.2:g.407611A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367721.1:c.2777A>G MANE Select NP_001354650.1:p.Tyr926Cys
ENST00000378163.7:c.2777A>G MANE Select ENSP00000367405.1:p.Tyr926Cys
NM_001126054.2:c.2693A>G NP_001119526.1:p.Tyr898Cys
NM_001126055.2:c.2690A>G NP_001119527.1:p.Tyr897Cys
NM_003688.3:c.2762A>G NP_003679.2:p.Tyr921Cys
ENST00000378154.3:c.2726A>G ENSP00000367396.2:p.Tyr909Cys
ENST00000378158.5:c.2726A>G ENSP00000367400.1:p.Tyr909Cys
ENST00000378158.6:c.2723A>G ENSP00000367400.2:p.Tyr908Cys
ENST00000378163.5:c.2777A>G ENSP00000367405.1:p.Tyr926Cys
ENST00000378166.8:c.2762A>G ENSP00000367408.4:p.Tyr921Cys
ENST00000378166.9:c.2675A>G ENSP00000367408.5:p.Tyr892Cys
ENST00000378168.6:c.1142A>G ENSP00000367410.2:p.Tyr381Cys
ENST00000378168.8:c.2780A>G ENSP00000367410.4:p.Tyr927Cys
ENST00000378179.7:c.1553A>G ENSP00000367421.3:p.Tyr518Cys
ENST00000378179.9:c.1397A>G ENSP00000367421.4:p.Tyr466Cys
ENST00000421587.6:c.2690A>G ENSP00000400526.2:p.Tyr897Cys
ENST00000421587.8:c.2708A>G ENSP00000400526.4:p.Tyr903Cys
ENST00000442742.6:c.2693A>G ENSP00000398007.2:p.Tyr898Cys
ENST00000442742.7:c.2639A>G ENSP00000398007.3:p.Tyr880Cys
ENST00000642499.1:n.1556A>G
ENST00000642641.1:n.936A>G
ENST00000643733.1:c.576A>G
ENST00000644219.1:c.2759A>G ENSP00000495357.1:p.Tyr920Cys
ENST00000644347.1:c.2690A>G ENSP00000494183.1:p.Tyr897Cys
ENST00000645566.1:c.2762A>G ENSP00000494788.1:p.Tyr921Cys
ENST00000645937.2:n.3008A>G
ENST00000645986.2:c.2864A>G ENSP00000494409.2:p.Tyr955Cys
ENST00000646087.2:c.2099A>G ENSP00000495510.2:p.Tyr700Cys
ENST00000646120.2:c.2693A>G ENSP00000495291.2:p.Tyr898Cys
ENST00000675354.1:c.2711A>G ENSP00000502315.1:p.Tyr904Cys
XM_005272686.3:c.2759A>G XP_005272743.1:p.Tyr920Cys
XM_005272686.4:c.2759A>G XP_005272743.1:p.Tyr920Cys
XM_006724566.2:c.2654A>G XP_006724629.1:p.Tyr885Cys
XM_006724566.3:c.2654A>G XP_006724629.1:p.Tyr885Cys
XM_011543993.1:c.2777A>G XP_011542295.1:p.Tyr926Cys
XM_011543993.2:c.2777A>G XP_011542295.1:p.Tyr926Cys
XM_011543994.1:c.2741A>G XP_011542296.1:p.Tyr914Cys
XM_011543994.2:c.2741A>G XP_011542296.1:p.Tyr914Cys
XM_011543995.1:c.2708A>G XP_011542297.1:p.Tyr903Cys
XM_011543995.2:c.2708A>G XP_011542297.1:p.Tyr903Cys
XM_011543996.1:c.2672A>G XP_011542298.1:p.Tyr891Cys
XM_011543996.2:c.2672A>G XP_011542298.1:p.Tyr891Cys
XM_011543997.1:c.2204A>G XP_011542299.1:p.Tyr735Cys
XM_011543997.3:c.2204A>G XP_011542299.1:p.Tyr735Cys
XM_024452473.1:c.2099A>G XP_024308241.1:p.Tyr700Cys