Canonical Allele Identifier: CA129846
Gene: WDR81 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.1727526C>T
GRCh37 chr17:g.1630820C>T
Revel Score:
ENST00000409644 (MANE Select) 0.599
gnomAD v2:
17:1630820 C / T
gnomAD v3:
17:1727526 C / T
gnomAD v4:
chr17-1727526-C-T
Joint Max Group AF 0.0001203 (AMR)
Genomes Max Group AF 0.00035418 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1727526C>T , CM000679.2:g.1727526C>T GRCh38
NC_000017.10:g.1630820C>T , CM000679.1:g.1630820C>T GRCh37
NC_000017.9:g.1577570C>T NCBI36
NG_032811.1:g.16004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409644.6:c.2567C>T MANE Select ENSP00000386609.1:p.Pro856Leu
ENST00000309182.9:c.-123-464C>T ENSP00000312074.5:n.-123-464C>T
ENST00000409644.5:c.2567C>T ENSP00000386609.1:p.Pro856Leu
ENST00000418841.5:c.-89+2740C>T ENSP00000395198.1:n.-89+2740C>T
ENST00000419248.5:c.-15+2740C>T ENSP00000407845.1:n.-15+2740C>T
ENST00000437219.6:c.59-2854C>T ENSP00000391074.2:n.59-2854C>T
ENST00000446363.5:c.-308-3229C>T ENSP00000401560.1:n.-308-3229C>T
ENST00000455636.5:c.59-2854C>T ENSP00000395226.1:n.59-2854C>T
ENST00000468539.5:c.63-4799C>T ENSP00000460742.1:n.63-4799C>T
ENST00000492901.1:n.88-2854C>T
NM_001163673.1:c.59-2854C>T NP_001157145.1:n.59-2854C>T
NM_001163809.1:c.2567C>T NP_001157281.1:p.Pro856Leu
NM_001163811.1:c.-15+2740C>T NP_001157283.1:n.-15+2740C>T
NM_152348.3:c.-123-464C>T NP_689561.2:n.-123-464C>T
XM_005256454.2:c.2567C>T XP_005256511.1:p.Pro856Leu
XM_011523650.1:c.2567C>T XP_011521952.1:p.Pro856Leu
XM_011523651.1:c.-123-464C>T XP_011521953.1:n.-123-464C>T
XR_933973.1:n.2711C>T
XM_011523651.2:c.-123-464C>T XP_011521953.1:n.-123-464C>T
XM_017024184.1:c.2567C>T XP_016879673.1:p.Pro856Leu
XR_001752427.1:n.2719C>T
XR_933973.2:n.2719C>T
NM_001163809.2:c.2567C>T MANE Select NP_001157281.1:p.Pro856Leu
NM_001163811.2:c.-15+2740C>T NP_001157283.1:n.-15+2740C>T
NM_152348.4:c.-123-464C>T NP_689561.2:n.-123-464C>T
NM_001163673.2:c.59-2854C>T NP_001157145.1:n.59-2854C>T
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