Canonical Allele Identifier: CA3135906

Gene: PALLD CBR4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.168903834C>G , CM000666.2:g.168903834C>G	GRCh38
NC_000004.11:g.169824985C>G , CM000666.1:g.169824985C>G	GRCh37
NC_000004.10:g.170061560C>G	NCBI36
NG_013376.1:g.411769C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001166108.2:c.2550C>G (PALLD) MANE Select	NP_001159580.1:p.Thr850=
ENST00000505667.6:c.2550C>G (PALLD) MANE Select	ENSP00000425556.1:p.Thr850=
NM_001166108.1:c.2550C>G (PALLD)	NP_001159580.1:p.Thr850=
NM_001166109.1:c.1353C>G (PALLD)	NP_001159581.1:p.Thr451=
NM_001166109.2:c.1353C>G (PALLD)	NP_001159581.1:p.Thr451=
NM_001166110.1:c.1038C>G (PALLD)	NP_001159582.1:p.Thr346=
NM_001166110.2:c.1038C>G (PALLD)	NP_001159582.1:p.Thr346=
NM_001367567.1:c.378C>G (PALLD)	NP_001354496.1:p.Thr126=
NM_001367568.1:c.429C>G (PALLD)	NP_001354497.1:p.Thr143=
NM_001367569.1:c.378C>G (PALLD)	NP_001354498.1:p.Thr126=
NM_001367570.1:c.429C>G (PALLD)	NP_001354499.1:p.Thr143=
NM_016081.3:c.2499C>G (PALLD)	NP_057165.3:p.Thr833=
NM_016081.4:c.2499C>G (PALLD)	NP_057165.3:p.Thr833=
ENST00000261509.10:c.2499C>G (PALLD)	ENSP00000261509.6:p.Thr833=
ENST00000393726.7:c.378C>G (PALLD)	ENSP00000377327.3:p.Thr126=
ENST00000505667.5:c.2550C>G (PALLD)	ENSP00000425556.1:p.Thr850=
ENST00000507325.5:n.588C>G (PALLD)
ENST00000507699.1:n.816C>G (PALLD)
ENST00000507735.5:c.1038C>G (PALLD)	ENSP00000424016.1:p.Thr346=
ENST00000507735.6:c.1038C>G (PALLD)	ENSP00000424016.1:p.Thr346=
ENST00000509108.1:n.170-9069G>C (CBR4)
ENST00000510042.5:c.*259-9069G>C (CBR4)	ENSP00000424717.1:n.*259-9069G>C
ENST00000511682.1:n.234C>G (PALLD)
ENST00000512127.5:c.1353C>G (PALLD)	ENSP00000426947.1:p.Thr451=
ENST00000513187.5:n.337C>G (PALLD)
ENST00000704822.1:c.429C>G (PALLD)	ENSP00000516055.1:p.Thr143=
XM_005262861.3:c.3222C>G (PALLD)	XP_005262918.1:p.Thr1074=
XM_005262861.4:c.3222C>G (PALLD)	XP_005262918.1:p.Thr1074=
XM_005262866.2:c.2076C>G (PALLD)	XP_005262923.1:p.Thr692=
XM_005263315.1:c.536-9069G>C (CBR4)	XP_005263372.1:n.536-9069G>C
XM_005263315.3:c.536-9069G>C (CBR4)	XP_005263372.1:n.536-9069G>C
XM_011531768.1:c.3426C>G (PALLD)	XP_011530070.1:p.Thr1142=
XM_011531768.2:c.3426C>G (PALLD)	XP_011530070.1:p.Thr1142=
XM_011531769.1:c.3375C>G (PALLD)	XP_011530071.1:p.Thr1125=
XM_011531769.2:c.3375C>G (PALLD)	XP_011530071.1:p.Thr1125=
XM_011531770.1:c.3426C>G (PALLD)	XP_011530072.1:p.Thr1142=
XM_011531770.2:c.3426C>G (PALLD)	XP_011530072.1:p.Thr1142=
XM_011531771.1:c.3153C>G (PALLD)	XP_011530073.1:p.Thr1051=
XM_011531771.2:c.3153C>G (PALLD)	XP_011530073.1:p.Thr1051=
XM_011531772.1:c.3054C>G (PALLD)	XP_011530074.1:p.Thr1018=
XM_011531772.2:c.3054C>G (PALLD)	XP_011530074.1:p.Thr1018=
XM_011531773.1:c.2754C>G (PALLD)	XP_011530075.1:p.Thr918=
XM_011531774.1:c.2703C>G (PALLD)	XP_011530076.1:p.Thr901=
XM_011531775.1:c.2076C>G (PALLD)	XP_011530077.1:p.Thr692=
XM_011531776.1:c.2076C>G (PALLD)	XP_011530078.1:p.Thr692=
XM_017007910.1:c.3375C>G (PALLD)	XP_016863399.1:p.Thr1125=
XM_017008782.1:c.566-9069G>C (CBR4)	XP_016864271.1:n.566-9069G>C
XM_024453939.1:c.2076C>G (PALLD)	XP_024309707.1:p.Thr692=
XM_024453940.1:c.1089C>G (PALLD)	XP_024309708.1:p.Thr363=
XR_001741341.1:n.902-8082G>C (CBR4)
XR_938789.1:n.902-9069G>C (CBR4)