Canonical Allele Identifier: CA358713803
Community Standard Title: NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168924997A>G , CM000666.2:g.168924997A>G GRCh38
NC_000004.11:g.169846148A>G , CM000666.1:g.169846148A>G GRCh37
NC_000004.10:g.170082723A>G NCBI36
NG_013376.1:g.432932A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001166108.2:c.3277A>G (PALLD) MANE Select NP_001159580.1:p.Lys1093Glu
ENST00000505667.6:c.3277A>G (PALLD) MANE Select ENSP00000425556.1:p.Lys1093Glu
NM_001166108.1:c.3277A>G (PALLD) NP_001159580.1:p.Lys1093Glu
NM_001166109.1:c.2080A>G (PALLD) NP_001159581.1:p.Lys694Glu
NM_001166109.2:c.2080A>G (PALLD) NP_001159581.1:p.Lys694Glu
NM_001166110.1:c.1765A>G (PALLD) NP_001159582.1:p.Lys589Glu
NM_001166110.2:c.1765A>G (PALLD) NP_001159582.1:p.Lys589Glu
NM_001367567.1:c.1105A>G (PALLD) NP_001354496.1:p.Lys369Glu
NM_001367568.1:c.1156A>G (PALLD) NP_001354497.1:p.Lys386Glu
NM_001367569.1:c.1105A>G (PALLD) NP_001354498.1:p.Lys369Glu
NM_001367570.1:c.1156A>G (PALLD) NP_001354499.1:p.Lys386Glu
NM_016081.3:c.3226A>G (PALLD) NP_057165.3:p.Lys1076Glu
NM_016081.4:c.3226A>G (PALLD) NP_057165.3:p.Lys1076Glu
ENST00000261509.10:c.3226A>G (PALLD) ENSP00000261509.6:p.Lys1076Glu
ENST00000503290.1:c.386A>G (PALLD)
ENST00000505667.5:c.3277A>G (PALLD) ENSP00000425556.1:p.Lys1093Glu
ENST00000507699.1:n.1543A>G (PALLD)
ENST00000507735.5:c.1765A>G (PALLD) ENSP00000424016.1:p.Lys589Glu
ENST00000507735.6:c.1765A>G (PALLD) ENSP00000424016.1:p.Lys589Glu
ENST00000509108.1:n.170-30232T>C (CBR4)
ENST00000510042.5:c.*259-30232T>C (CBR4) ENSP00000424717.1:n.*259-30232T>C
ENST00000512127.5:c.2080A>G (PALLD) ENSP00000426947.1:p.Lys694Glu
ENST00000704822.1:c.1156A>G (PALLD) ENSP00000516055.1:p.Lys386Glu
XM_005262861.3:c.3949A>G (PALLD) XP_005262918.1:p.Lys1317Glu
XM_005262861.4:c.3949A>G (PALLD) XP_005262918.1:p.Lys1317Glu
XM_005262866.2:c.2803A>G (PALLD) XP_005262923.1:p.Lys935Glu
XM_005263315.1:c.536-30232T>C (CBR4) XP_005263372.1:n.536-30232T>C
XM_005263315.3:c.536-30232T>C (CBR4) XP_005263372.1:n.536-30232T>C
XM_011531768.1:c.4153A>G (PALLD) XP_011530070.1:p.Lys1385Glu
XM_011531768.2:c.4153A>G (PALLD) XP_011530070.1:p.Lys1385Glu
XM_011531769.1:c.4102A>G (PALLD) XP_011530071.1:p.Lys1368Glu
XM_011531769.2:c.4102A>G (PALLD) XP_011530071.1:p.Lys1368Glu
XM_011531770.1:c.4153A>G (PALLD) XP_011530072.1:p.Lys1385Glu
XM_011531770.2:c.4153A>G (PALLD) XP_011530072.1:p.Lys1385Glu
XM_011531771.1:c.3880A>G (PALLD) XP_011530073.1:p.Lys1294Glu
XM_011531771.2:c.3880A>G (PALLD) XP_011530073.1:p.Lys1294Glu
XM_011531772.1:c.3781A>G (PALLD) XP_011530074.1:p.Lys1261Glu
XM_011531772.2:c.3781A>G (PALLD) XP_011530074.1:p.Lys1261Glu
XM_011531773.1:c.3481A>G (PALLD) XP_011530075.1:p.Lys1161Glu
XM_011531774.1:c.3430A>G (PALLD) XP_011530076.1:p.Lys1144Glu
XM_011531775.1:c.2803A>G (PALLD) XP_011530077.1:p.Lys935Glu
XM_011531776.1:c.2803A>G (PALLD) XP_011530078.1:p.Lys935Glu
XM_017007910.1:c.4102A>G (PALLD) XP_016863399.1:p.Lys1368Glu
XM_017008782.1:c.566-30232T>C (CBR4) XP_016864271.1:n.566-30232T>C
XM_024453939.1:c.2803A>G (PALLD) XP_024309707.1:p.Lys935Glu
XM_024453940.1:c.1816A>G (PALLD) XP_024309708.1:p.Lys606Glu
XR_001741341.1:n.901+3540T>C (CBR4)
XR_938789.1:n.901+3540T>C (CBR4)