Canonical Allele Identifier: CA3136013

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168921686T>C , CM000666.2:g.168921686T>C GRCh38
NC_000004.11:g.169842837T>C , CM000666.1:g.169842837T>C GRCh37
NC_000004.10:g.170079412T>C NCBI36
NG_013376.1:g.429621T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704822.1:c.882T>C (PALLD) ENSP00000516055.1:p.Cys294=
ENST00000505667.6:c.3003T>C (PALLD) MANE Select ENSP00000425556.1:p.Cys1001=
ENST00000507735.6:c.1491T>C (PALLD) ENSP00000424016.1:p.Cys497=
ENST00000261509.10:c.2952T>C (PALLD) ENSP00000261509.6:p.Cys984=
ENST00000503290.1:c.112T>C (PALLD)
ENST00000505667.5:c.3003T>C (PALLD) ENSP00000425556.1:p.Cys1001=
ENST00000507699.1:n.1269T>C (PALLD)
ENST00000507735.5:c.1491T>C (PALLD) ENSP00000424016.1:p.Cys497=
ENST00000509108.1:n.170-26921A>G (CBR4)
ENST00000510042.5:c.*259-26921A>G (CBR4) ENSP00000424717.1:n.*259-26921A>G
ENST00000512127.5:c.1806T>C (PALLD) ENSP00000426947.1:p.Cys602=
NM_001166108.1:c.3003T>C (PALLD) NP_001159580.1:p.Cys1001=
NM_001166109.1:c.1806T>C (PALLD) NP_001159581.1:p.Cys602=
NM_001166110.1:c.1491T>C (PALLD) NP_001159582.1:p.Cys497=
NM_016081.3:c.2952T>C (PALLD) NP_057165.3:p.Cys984=
XM_005262861.3:c.3675T>C (PALLD) XP_005262918.1:p.Cys1225=
XM_005262866.2:c.2529T>C (PALLD) XP_005262923.1:p.Cys843=
XM_005263315.1:c.536-26921A>G (CBR4) XP_005263372.1:n.536-26921A>G
XM_011531768.1:c.3879T>C (PALLD) XP_011530070.1:p.Cys1293=
XM_011531769.1:c.3828T>C (PALLD) XP_011530071.1:p.Cys1276=
XM_011531770.1:c.3879T>C (PALLD) XP_011530072.1:p.Cys1293=
XM_011531771.1:c.3606T>C (PALLD) XP_011530073.1:p.Cys1202=
XM_011531772.1:c.3507T>C (PALLD) XP_011530074.1:p.Cys1169=
XM_011531773.1:c.3207T>C (PALLD) XP_011530075.1:p.Cys1069=
XM_011531774.1:c.3156T>C (PALLD) XP_011530076.1:p.Cys1052=
XM_011531775.1:c.2529T>C (PALLD) XP_011530077.1:p.Cys843=
XM_011531776.1:c.2529T>C (PALLD) XP_011530078.1:p.Cys843=
XR_938789.1:n.901+6851A>G (CBR4)
XM_005262861.4:c.3675T>C (PALLD) XP_005262918.1:p.Cys1225=
XM_005263315.3:c.536-26921A>G (CBR4) XP_005263372.1:n.536-26921A>G
XM_011531768.2:c.3879T>C (PALLD) XP_011530070.1:p.Cys1293=
XM_011531769.2:c.3828T>C (PALLD) XP_011530071.1:p.Cys1276=
XM_011531770.2:c.3879T>C (PALLD) XP_011530072.1:p.Cys1293=
XM_011531771.2:c.3606T>C (PALLD) XP_011530073.1:p.Cys1202=
XM_011531772.2:c.3507T>C (PALLD) XP_011530074.1:p.Cys1169=
XM_017007910.1:c.3828T>C (PALLD) XP_016863399.1:p.Cys1276=
XM_017008782.1:c.566-26921A>G (CBR4) XP_016864271.1:n.566-26921A>G
XM_024453939.1:c.2529T>C (PALLD) XP_024309707.1:p.Cys843=
XM_024453940.1:c.1542T>C (PALLD) XP_024309708.1:p.Cys514=
XR_001741341.1:n.901+6851A>G (CBR4)
NM_001166108.2:c.3003T>C (PALLD) MANE Select NP_001159580.1:p.Cys1001=
NM_001367567.1:c.831T>C (PALLD) NP_001354496.1:p.Cys277=
NM_001367568.1:c.882T>C (PALLD) NP_001354497.1:p.Cys294=
NM_001367569.1:c.831T>C (PALLD) NP_001354498.1:p.Cys277=
NM_001367570.1:c.882T>C (PALLD) NP_001354499.1:p.Cys294=
NM_001166109.2:c.1806T>C (PALLD) NP_001159581.1:p.Cys602=
NM_001166110.2:c.1491T>C (PALLD) NP_001159582.1:p.Cys497=
NM_016081.4:c.2952T>C (PALLD) NP_057165.3:p.Cys984=