Canonical Allele Identifier: CA110495087
Community Standard Title: NM_001166108.2(PALLD):c.1412A>T (p.Gln471Leu)
Gene: PALLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168690679A>T , CM000666.2:g.168690679A>T GRCh38
NC_000004.11:g.169611830A>T , CM000666.1:g.169611830A>T GRCh37
NC_000004.10:g.169848405A>T NCBI36
NG_013376.1:g.198614A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001166108.2:c.1412A>T MANE Select NP_001159580.1:p.Gln471Leu
ENST00000505667.6:c.1412A>T MANE Select ENSP00000425556.1:p.Gln471Leu
NM_001166108.1:c.1412A>T NP_001159580.1:p.Gln471Leu
NM_001166109.1:c.266A>T NP_001159581.1:p.Gln89Leu
NM_001166109.2:c.266A>T NP_001159581.1:p.Gln89Leu
NM_016081.3:c.1412A>T NP_057165.3:p.Gln471Leu
NM_016081.4:c.1412A>T NP_057165.3:p.Gln471Leu
ENST00000261509.10:c.1412A>T ENSP00000261509.6:p.Gln471Leu
ENST00000503457.1:c.266A>T ENSP00000424288.1:p.Gln89Leu
ENST00000505667.5:c.1412A>T ENSP00000425556.1:p.Gln471Leu
ENST00000508898.5:c.1349A>T ENSP00000423063.1:p.Gln450Leu
ENST00000512127.5:c.266A>T ENSP00000426947.1:p.Gln89Leu
XM_005262861.3:c.1412A>T XP_005262918.1:p.Gln471Leu
XM_005262861.4:c.1412A>T XP_005262918.1:p.Gln471Leu
XM_005262866.2:c.266A>T XP_005262923.1:p.Gln89Leu
XM_011531768.1:c.1616A>T XP_011530070.1:p.Gln539Leu
XM_011531768.2:c.1616A>T XP_011530070.1:p.Gln539Leu
XM_011531769.1:c.1616A>T XP_011530071.1:p.Gln539Leu
XM_011531769.2:c.1616A>T XP_011530071.1:p.Gln539Leu
XM_011531770.1:c.1616A>T XP_011530072.1:p.Gln539Leu
XM_011531770.2:c.1616A>T XP_011530072.1:p.Gln539Leu
XM_011531771.1:c.1616A>T XP_011530073.1:p.Gln539Leu
XM_011531771.2:c.1616A>T XP_011530073.1:p.Gln539Leu
XM_011531772.1:c.1616A>T XP_011530074.1:p.Gln539Leu
XM_011531772.2:c.1616A>T XP_011530074.1:p.Gln539Leu
XM_011531773.1:c.1616A>T XP_011530075.1:p.Gln539Leu
XM_011531774.1:c.1616A>T XP_011530076.1:p.Gln539Leu
XM_011531775.1:c.266A>T XP_011530077.1:p.Gln89Leu
XM_011531776.1:c.266A>T XP_011530078.1:p.Gln89Leu
XM_017007910.1:c.1616A>T XP_016863399.1:p.Gln539Leu
XM_017007911.1:c.1616A>T XP_016863400.1:p.Gln539Leu
XM_024453939.1:c.266A>T XP_024309707.1:p.Gln89Leu