Canonical Allele Identifier: CA6210845

Gene: CCDC90B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.83273684T>C , CM000673.2:g.83273684T>C	GRCh38
NC_000011.9:g.82984727T>C , CM000673.1:g.82984727T>C	GRCh37
NC_000011.8:g.82662375T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529689.6:c.557A>G MANE Select	ENSP00000434724.1:p.Lys186Arg
ENST00000260054.8:c.*154A>G	ENSP00000260054.4:n.*154A>G
ENST00000455220.6:c.530A>G	ENSP00000390990.2:p.Lys177Arg
ENST00000525503.5:c.254A>G	ENSP00000431424.1:p.Lys85Arg
ENST00000525916.1:n.649A>G
ENST00000526265.5:c.*805A>G	ENSP00000432999.1:n.*805A>G
ENST00000527025.5:c.*525A>G	ENSP00000434775.1:n.*525A>G
ENST00000527495.5:c.338A>G	ENSP00000436974.1:p.Lys113Arg
ENST00000528149.5:c.*641A>G	ENSP00000433992.1:n.*641A>G
ENST00000529073.5:c.523A>G	ENSP00000431523.1:p.Ser175Gly
ENST00000529312.5:c.*421A>G	ENSP00000432115.1:n.*421A>G
ENST00000529611.5:c.254A>G	ENSP00000431345.1:p.Lys85Arg
ENST00000529689.5:c.557A>G	ENSP00000434724.1:p.Lys186Arg
ENST00000529745.5:c.*159A>G	ENSP00000434242.1:n.*159A>G
ENST00000529856.5:c.*159A>G	ENSP00000434078.1:n.*159A>G
ENST00000533761.5:c.1091A>G
ENST00000534753.5:c.*226A>G	ENSP00000432646.1:n.*226A>G
NM_001286116.1:c.530A>G	NP_001273045.1:p.Lys177Arg
NM_001286117.1:c.254A>G	NP_001273046.1:p.Lys85Arg
NM_001286118.1:c.263A>G	NP_001273047.1:p.Lys88Arg
NM_001286119.1:c.263A>G	NP_001273048.1:p.Lys88Arg
NM_001286120.1:c.212A>G	NP_001273049.1:p.Lys71Arg
NM_021825.4:c.557A>G	NP_068597.2:p.Lys186Arg
XM_005274154.1:c.263A>G	XP_005274211.1:p.Lys88Arg
XM_005274156.2:c.263A>G	XP_005274213.1:p.Lys88Arg
XM_005274159.2:c.254A>G	XP_005274216.1:p.Lys85Arg
XM_005274154.3:c.263A>G	XP_005274211.1:p.Lys88Arg
XM_005274156.3:c.263A>G	XP_005274213.1:p.Lys88Arg
XM_005274159.3:c.254A>G	XP_005274216.1:p.Lys85Arg
XM_017018103.2:c.263A>G	XP_016873592.1:p.Lys88Arg
XM_017018104.1:c.254A>G	XP_016873593.1:p.Lys85Arg
NM_001286117.2:c.254A>G	NP_001273046.1:p.Lys85Arg
NM_001286118.2:c.263A>G	NP_001273047.1:p.Lys88Arg
NM_001286119.2:c.263A>G	NP_001273048.1:p.Lys88Arg
NM_001286120.2:c.212A>G	NP_001273049.1:p.Lys71Arg
NM_001286116.2:c.254A>G	NP_001273045.2:p.Lys85Arg
NM_001286117.3:c.254A>G	NP_001273046.1:p.Lys85Arg
NM_001286118.3:c.263A>G	NP_001273047.1:p.Lys88Arg
NM_001286119.3:c.263A>G	NP_001273048.1:p.Lys88Arg
NM_001286120.3:c.212A>G	NP_001273049.1:p.Lys71Arg
NM_021825.5:c.557A>G MANE Select	NP_068597.2:p.Lys186Arg