Canonical Allele Identifier: CA288357

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168898535A>T , CM000666.2:g.168898535A>T GRCh38
NC_000004.11:g.169819686A>T , CM000666.1:g.169819686A>T GRCh37
NC_000004.10:g.170056261A>T NCBI36
NG_013376.1:g.406470A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704822.1:c.172A>T (PALLD) ENSP00000516055.1:p.Ile58Leu
ENST00000505667.6:c.2293A>T (PALLD) MANE Select ENSP00000425556.1:p.Ile765Leu
ENST00000507735.6:c.781A>T (PALLD) ENSP00000424016.1:p.Ile261Leu
ENST00000261509.10:c.2242A>T (PALLD) ENSP00000261509.6:p.Ile748Leu
ENST00000393726.7:c.121A>T (PALLD) ENSP00000377327.3:p.Ile41Leu
ENST00000505667.5:c.2293A>T (PALLD) ENSP00000425556.1:p.Ile765Leu
ENST00000507325.5:n.331A>T (PALLD)
ENST00000507699.1:n.559A>T (PALLD)
ENST00000507735.5:c.781A>T (PALLD) ENSP00000424016.1:p.Ile261Leu
ENST00000509108.1:n.170-3770T>A (CBR4)
ENST00000510042.5:c.*259-3770T>A (CBR4) ENSP00000424717.1:n.*259-3770T>A
ENST00000510998.5:c.121A>T (PALLD) ENSP00000422135.1:p.Ile41Leu
ENST00000512127.5:c.1096A>T (PALLD) ENSP00000426947.1:p.Ile366Leu
ENST00000513187.5:n.80A>T (PALLD)
NM_001166108.1:c.2293A>T (PALLD) NP_001159580.1:p.Ile765Leu
NM_001166109.1:c.1096A>T (PALLD) NP_001159581.1:p.Ile366Leu
NM_001166110.1:c.781A>T (PALLD) NP_001159582.1:p.Ile261Leu
NM_016081.3:c.2242A>T (PALLD) NP_057165.3:p.Ile748Leu
XM_005262861.3:c.2965A>T (PALLD) XP_005262918.1:p.Ile989Leu
XM_005262866.2:c.1819A>T (PALLD) XP_005262923.1:p.Ile607Leu
XM_005263315.1:c.536-3770T>A (CBR4) XP_005263372.1:n.536-3770T>A
XM_011531768.1:c.3169A>T (PALLD) XP_011530070.1:p.Ile1057Leu
XM_011531769.1:c.3118A>T (PALLD) XP_011530071.1:p.Ile1040Leu
XM_011531770.1:c.3169A>T (PALLD) XP_011530072.1:p.Ile1057Leu
XM_011531771.1:c.3075+3858A>T (PALLD) XP_011530073.1:n.3075+3858A>T
XM_011531772.1:c.2977-5222A>T (PALLD) XP_011530074.1:n.2977-5222A>T
XM_011531773.1:c.2497A>T (PALLD) XP_011530075.1:p.Ile833Leu
XM_011531774.1:c.2446A>T (PALLD) XP_011530076.1:p.Ile816Leu
XM_011531775.1:c.1819A>T (PALLD) XP_011530077.1:p.Ile607Leu
XM_011531776.1:c.1819A>T (PALLD) XP_011530078.1:p.Ile607Leu
XR_938789.1:n.902-3770T>A (CBR4)
XM_005262861.4:c.2965A>T (PALLD) XP_005262918.1:p.Ile989Leu
XM_005263315.3:c.536-3770T>A (CBR4) XP_005263372.1:n.536-3770T>A
XM_011531768.2:c.3169A>T (PALLD) XP_011530070.1:p.Ile1057Leu
XM_011531769.2:c.3118A>T (PALLD) XP_011530071.1:p.Ile1040Leu
XM_011531770.2:c.3169A>T (PALLD) XP_011530072.1:p.Ile1057Leu
XM_011531771.2:c.3075+3858A>T (PALLD) XP_011530073.1:n.3075+3858A>T
XM_011531772.2:c.2977-5222A>T (PALLD) XP_011530074.1:n.2977-5222A>T
XM_017007910.1:c.3118A>T (PALLD) XP_016863399.1:p.Ile1040Leu
XM_017008782.1:c.566-3770T>A (CBR4) XP_016864271.1:n.566-3770T>A
XM_024453939.1:c.1819A>T (PALLD) XP_024309707.1:p.Ile607Leu
XM_024453940.1:c.832A>T (PALLD) XP_024309708.1:p.Ile278Leu
XR_001741341.1:n.902-2783T>A (CBR4)
NM_001166108.2:c.2293A>T (PALLD) MANE Select NP_001159580.1:p.Ile765Leu
NM_001367567.1:c.121A>T (PALLD) NP_001354496.1:p.Ile41Leu
NM_001367568.1:c.172A>T (PALLD) NP_001354497.1:p.Ile58Leu
NM_001367569.1:c.121A>T (PALLD) NP_001354498.1:p.Ile41Leu
NM_001367570.1:c.172A>T (PALLD) NP_001354499.1:p.Ile58Leu
NM_001166109.2:c.1096A>T (PALLD) NP_001159581.1:p.Ile366Leu
NM_001166110.2:c.781A>T (PALLD) NP_001159582.1:p.Ile261Leu
NM_016081.4:c.2242A>T (PALLD) NP_057165.3:p.Ile748Leu