Canonical Allele Identifier: CA1821084531

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133059888T>G , CM000670.2:g.133059888T>G GRCh38
NC_000008.10:g.134072133T>G , CM000670.1:g.134072133T>G GRCh37
NC_000008.9:g.134141315T>G NCBI36
NG_015832.1:g.197929T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.7239+29865T>G (TG) MANE Select ENSP00000220616.4:n.7239+29865T>G
ENST00000338087.10:c.61+212A>C (SLA) MANE Select ENSP00000337548.5:n.61+212A>C
ENST00000220616.8:c.7239+29865T>G (TG) ENSP00000220616.4:n.7239+29865T>G
ENST00000338087.9:c.61+212A>C (SLA) ENSP00000337548.5:n.61+212A>C
ENST00000395352.7:c.112+212A>C (SLA) ENSP00000378759.3:n.112+212A>C
ENST00000427060.6:c.181+212A>C (SLA) ENSP00000394049.2:n.181+212A>C
ENST00000517648.5:c.112+212A>C (SLA) ENSP00000428559.1:n.112+212A>C
ENST00000518565.5:n.425+212A>C (SLA)
ENST00000518594.1:n.271+212A>C (SLA)
ENST00000519178.5:c.2605+29865T>G (TG)
ENST00000519341.5:c.61+212A>C (SLA) ENSP00000429681.1:n.61+212A>C
ENST00000519504.5:n.189+212A>C (SLA)
ENST00000519543.5:c.1638+29865T>G (TG) ENSP00000430430.1:n.1638+29865T>G
ENST00000519747.5:c.61+212A>C (SLA) ENSP00000428971.1:n.61+212A>C
ENST00000520106.5:n.276+212A>C (SLA)
ENST00000521302.5:c.61+212A>C (SLA) ENSP00000430184.1:n.61+212A>C
ENST00000521823.5:n.355-8973A>C (SLA)
ENST00000522002.5:n.202+212A>C (SLA)
ENST00000522119.5:c.61+212A>C (SLA) ENSP00000430596.1:n.61+212A>C
ENST00000522432.5:c.61+212A>C (SLA) ENSP00000429844.1:n.61+212A>C
ENST00000523224.5:n.198+212A>C (SLA)
ENST00000523610.5:c.61+212A>C (SLA) ENSP00000428087.1:n.61+212A>C
ENST00000523756.5:c.3894+29865T>G (TG)
ENST00000524345.5:c.-263-8973A>C (SLA) ENSP00000427928.1:n.-263-8973A>C
NM_001045556.2:c.61+212A>C (SLA) NP_001039021.1:n.61+212A>C
NM_001045557.2:c.112+212A>C (SLA) NP_001039022.2:n.112+212A>C
NM_001282964.1:c.112+212A>C (SLA) NP_001269893.1:n.112+212A>C
NM_001282965.1:c.-263-8973A>C (SLA) NP_001269894.1:n.-263-8973A>C
NM_003235.4:c.7239+29865T>G (TG) NP_003226.4:n.7239+29865T>G
NM_006748.3:c.181+212A>C (SLA) NP_006739.2:n.181+212A>C
XM_005251038.3:c.7047+29865T>G (TG) XP_005251095.1:n.7047+29865T>G
XM_006716622.2:c.7176+29865T>G (TG) XP_006716685.1:n.7176+29865T>G
XM_011517227.1:c.-263-8973A>C (SLA) XP_011515529.1:n.-263-8973A>C
XM_005251038.4:c.7047+29865T>G (TG) XP_005251095.1:n.7047+29865T>G
XM_006716622.3:c.7176+29865T>G (TG) XP_006716685.1:n.7176+29865T>G
XM_017013739.2:c.-263-8973A>C (SLA) XP_016869228.1:n.-263-8973A>C
XM_017013793.1:c.7173+29865T>G (TG) XP_016869282.1:n.7173+29865T>G
XM_017013794.1:c.7239+29865T>G (TG) XP_016869283.1:n.7239+29865T>G
XM_017013795.1:c.7068+29865T>G (TG) XP_016869284.1:n.7068+29865T>G
XM_017013796.1:c.7020+29865T>G (TG) XP_016869285.1:n.7020+29865T>G
XM_017013797.1:c.6978+29865T>G (TG) XP_016869286.1:n.6978+29865T>G
XM_017013798.1:c.7239+29865T>G (TG) XP_016869287.1:n.7239+29865T>G
NM_001045556.3:c.61+212A>C (SLA) MANE Select NP_001039021.1:n.61+212A>C
NM_003235.5:c.7239+29865T>G (TG) MANE Select NP_003226.4:n.7239+29865T>G
NM_001045557.3:c.112+212A>C (SLA) NP_001039022.2:n.112+212A>C
NM_001282964.2:c.112+212A>C (SLA) NP_001269893.1:n.112+212A>C
NM_001282965.2:c.-263-8973A>C (SLA) NP_001269894.1:n.-263-8973A>C
NM_006748.4:c.181+212A>C (SLA) NP_006739.2:n.181+212A>C