Canonical Allele Identifier: CA349006271

Gene: COBLL1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.164694691T>A , CM000664.2:g.164694691T>A	GRCh38
NC_000002.11:g.165551201T>A , CM000664.1:g.165551201T>A	GRCh37
NC_000002.10:g.165259447T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409184.8:c.2839A>T	ENSP00000387326.5:p.Asn947Tyr
ENST00000652658.2:c.2701A>T MANE Select	ENSP00000498242.1:p.Asn901Tyr
ENST00000342193.8:c.2815A>T	ENSP00000341360.4:p.Asn939Tyr
ENST00000375458.6:c.2701A>T	ENSP00000364607.2:p.Asn901Tyr
ENST00000392717.6:c.2929A>T	ENSP00000376478.2:p.Asn977Tyr
ENST00000409184.7:c.2820A>T
ENST00000489955.1:n.3610A>T
ENST00000493713.1:n.47A>T
ENST00000493868.5:n.4525A>T
ENST00000629362.2:c.3016A>T	ENSP00000487041.2:p.Asn1006Tyr
NM_001278458.1:c.3016A>T	NP_001265387.1:p.Asn1006Tyr
NM_001278460.1:c.2839A>T	NP_001265389.1:p.Asn947Tyr
NM_001278461.1:c.2701A>T	NP_001265390.1:p.Asn901Tyr
NM_014900.4:c.2815A>T	NP_055715.3:p.Asn939Tyr
NM_001365670.1:c.2836A>T	NP_001352599.1:p.Asn946Tyr
NM_001365671.1:c.2878A>T	NP_001352600.1:p.Asn960Tyr
NM_001365672.1:c.2701A>T	NP_001352601.1:p.Asn901Tyr
NM_001365673.1:c.2701A>T	NP_001352602.1:p.Asn901Tyr
NM_001365674.1:c.2740A>T	NP_001352603.1:p.Asn914Tyr
NM_001365675.1:c.2740A>T	NP_001352604.1:p.Asn914Tyr
NM_001278458.2:c.3016A>T	NP_001265387.1:p.Asn1006Tyr
NM_001278460.2:c.2839A>T	NP_001265389.1:p.Asn947Tyr
NM_001278461.2:c.2701A>T	NP_001265390.1:p.Asn901Tyr
NM_001365670.2:c.2836A>T	NP_001352599.1:p.Asn946Tyr
NM_001365672.2:c.2701A>T MANE Select	NP_001352601.1:p.Asn901Tyr
NM_001365673.2:c.2701A>T	NP_001352602.1:p.Asn901Tyr
NM_001365674.2:c.2740A>T	NP_001352603.1:p.Asn914Tyr
NM_001365675.2:c.2740A>T	NP_001352604.1:p.Asn914Tyr
NM_014900.5:c.2815A>T	NP_055715.3:p.Asn939Tyr