Canonical Allele Identifier: CA8272983

Gene: WDR81

Linked Data

• ClinVar Variation Id: 982855
• ClinVar RCV Id: RCV001262568
• dbSNP Id: rs374149596
• ExAC: 17:1628735 C / T
• gnomAD v2: 17-1628735-C-T
• gnomAD v3: 17-1725441-C-T
• gnomAD v4: 17-1725441-C-T
• MyVariant Identifiers: chr17:g.1628735C>T (hg19) ; chr17:g.1725441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1725441C>T , CM000679.2:g.1725441C>T	GRCh38
NC_000017.10:g.1628735C>T , CM000679.1:g.1628735C>T	GRCh37
NC_000017.9:g.1575485C>T	NCBI36
NG_032811.1:g.13919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.482C>T MANE Select	ENSP00000386609.1:p.Pro161Leu
ENST00000309182.9:c.-123-2549C>T	ENSP00000312074.5:n.-123-2549C>T
ENST00000409644.5:c.482C>T	ENSP00000386609.1:p.Pro161Leu
ENST00000418841.5:c.-89+655C>T	ENSP00000395198.1:n.-89+655C>T
ENST00000419248.5:c.-15+655C>T	ENSP00000407845.1:n.-15+655C>T
ENST00000437219.6:c.59-4939C>T	ENSP00000391074.2:n.59-4939C>T
ENST00000446363.5:c.-308-5314C>T	ENSP00000401560.1:n.-308-5314C>T
ENST00000455636.5:c.59-4939C>T	ENSP00000395226.1:n.59-4939C>T
ENST00000468539.5:c.63-6884C>T	ENSP00000460742.1:n.63-6884C>T
ENST00000492901.1:n.88-4939C>T
NM_001163673.1:c.59-4939C>T	NP_001157145.1:n.59-4939C>T
NM_001163809.1:c.482C>T	NP_001157281.1:p.Pro161Leu
NM_001163811.1:c.-15+655C>T	NP_001157283.1:n.-15+655C>T
NM_152348.3:c.-123-2549C>T	NP_689561.2:n.-123-2549C>T
XM_005256454.2:c.482C>T	XP_005256511.1:p.Pro161Leu
XM_011523650.1:c.482C>T	XP_011521952.1:p.Pro161Leu
XM_011523651.1:c.-124+655C>T	XP_011521953.1:n.-124+655C>T
XR_933973.1:n.626C>T
XM_011523651.2:c.-124+655C>T	XP_011521953.1:n.-124+655C>T
XM_017024184.1:c.482C>T	XP_016879673.1:p.Pro161Leu
XR_001752427.1:n.634C>T
XR_933973.2:n.634C>T
NM_001163809.2:c.482C>T MANE Select	NP_001157281.1:p.Pro161Leu
NM_001163811.2:c.-15+655C>T	NP_001157283.1:n.-15+655C>T
NM_152348.4:c.-123-2549C>T	NP_689561.2:n.-123-2549C>T
NM_001163673.2:c.59-4939C>T	NP_001157145.1:n.59-4939C>T