Canonical Allele Identifier: CA3135904
Community Standard Title: NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168903823C>G , CM000666.2:g.168903823C>G GRCh38
NC_000004.11:g.169824974C>G , CM000666.1:g.169824974C>G GRCh37
NC_000004.10:g.170061549C>G NCBI36
NG_013376.1:g.411758C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001166108.2:c.2539C>G (PALLD) MANE Select NP_001159580.1:p.Leu847Val
ENST00000505667.6:c.2539C>G (PALLD) MANE Select ENSP00000425556.1:p.Leu847Val
NM_001166108.1:c.2539C>G (PALLD) NP_001159580.1:p.Leu847Val
NM_001166109.1:c.1342C>G (PALLD) NP_001159581.1:p.Leu448Val
NM_001166109.2:c.1342C>G (PALLD) NP_001159581.1:p.Leu448Val
NM_001166110.1:c.1027C>G (PALLD) NP_001159582.1:p.Leu343Val
NM_001166110.2:c.1027C>G (PALLD) NP_001159582.1:p.Leu343Val
NM_001367567.1:c.367C>G (PALLD) NP_001354496.1:p.Leu123Val
NM_001367568.1:c.418C>G (PALLD) NP_001354497.1:p.Leu140Val
NM_001367569.1:c.367C>G (PALLD) NP_001354498.1:p.Leu123Val
NM_001367570.1:c.418C>G (PALLD) NP_001354499.1:p.Leu140Val
NM_016081.3:c.2488C>G (PALLD) NP_057165.3:p.Leu830Val
NM_016081.4:c.2488C>G (PALLD) NP_057165.3:p.Leu830Val
ENST00000261509.10:c.2488C>G (PALLD) ENSP00000261509.6:p.Leu830Val
ENST00000393726.7:c.367C>G (PALLD) ENSP00000377327.3:p.Leu123Val
ENST00000505667.5:c.2539C>G (PALLD) ENSP00000425556.1:p.Leu847Val
ENST00000507325.5:n.577C>G (PALLD)
ENST00000507699.1:n.805C>G (PALLD)
ENST00000507735.5:c.1027C>G (PALLD) ENSP00000424016.1:p.Leu343Val
ENST00000507735.6:c.1027C>G (PALLD) ENSP00000424016.1:p.Leu343Val
ENST00000509108.1:n.170-9058G>C (CBR4)
ENST00000510042.5:c.*259-9058G>C (CBR4) ENSP00000424717.1:n.*259-9058G>C
ENST00000511682.1:n.223C>G (PALLD)
ENST00000512127.5:c.1342C>G (PALLD) ENSP00000426947.1:p.Leu448Val
ENST00000513187.5:n.326C>G (PALLD)
ENST00000704822.1:c.418C>G (PALLD) ENSP00000516055.1:p.Leu140Val
XM_005262861.3:c.3211C>G (PALLD) XP_005262918.1:p.Leu1071Val
XM_005262861.4:c.3211C>G (PALLD) XP_005262918.1:p.Leu1071Val
XM_005262866.2:c.2065C>G (PALLD) XP_005262923.1:p.Leu689Val
XM_005263315.1:c.536-9058G>C (CBR4) XP_005263372.1:n.536-9058G>C
XM_005263315.3:c.536-9058G>C (CBR4) XP_005263372.1:n.536-9058G>C
XM_011531768.1:c.3415C>G (PALLD) XP_011530070.1:p.Leu1139Val
XM_011531768.2:c.3415C>G (PALLD) XP_011530070.1:p.Leu1139Val
XM_011531769.1:c.3364C>G (PALLD) XP_011530071.1:p.Leu1122Val
XM_011531769.2:c.3364C>G (PALLD) XP_011530071.1:p.Leu1122Val
XM_011531770.1:c.3415C>G (PALLD) XP_011530072.1:p.Leu1139Val
XM_011531770.2:c.3415C>G (PALLD) XP_011530072.1:p.Leu1139Val
XM_011531771.1:c.3142C>G (PALLD) XP_011530073.1:p.Leu1048Val
XM_011531771.2:c.3142C>G (PALLD) XP_011530073.1:p.Leu1048Val
XM_011531772.1:c.3043C>G (PALLD) XP_011530074.1:p.Leu1015Val
XM_011531772.2:c.3043C>G (PALLD) XP_011530074.1:p.Leu1015Val
XM_011531773.1:c.2743C>G (PALLD) XP_011530075.1:p.Leu915Val
XM_011531774.1:c.2692C>G (PALLD) XP_011530076.1:p.Leu898Val
XM_011531775.1:c.2065C>G (PALLD) XP_011530077.1:p.Leu689Val
XM_011531776.1:c.2065C>G (PALLD) XP_011530078.1:p.Leu689Val
XM_017007910.1:c.3364C>G (PALLD) XP_016863399.1:p.Leu1122Val
XM_017008782.1:c.566-9058G>C (CBR4) XP_016864271.1:n.566-9058G>C
XM_024453939.1:c.2065C>G (PALLD) XP_024309707.1:p.Leu689Val
XM_024453940.1:c.1078C>G (PALLD) XP_024309708.1:p.Leu360Val
XR_001741341.1:n.902-8071G>C (CBR4)
XR_938789.1:n.902-9058G>C (CBR4)