Canonical Allele Identifier: CA2539801890

Gene: COBLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.164720678C>A , CM000664.2:g.164720678C>A	GRCh38
NC_000002.11:g.165577188C>A , CM000664.1:g.165577188C>A	GRCh37
NC_000002.10:g.165285434C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409184.8:c.1134+1397G>T	ENSP00000387326.5:n.1134+1397G>T
ENST00000652658.2:c.996+1397G>T MANE Select	ENSP00000498242.1:n.996+1397G>T
ENST00000342193.8:c.996+1397G>T	ENSP00000341360.4:n.996+1397G>T
ENST00000375458.6:c.996+1397G>T	ENSP00000364607.2:n.996+1397G>T
ENST00000392717.6:c.1110+1397G>T	ENSP00000376478.2:n.1110+1397G>T
ENST00000409184.7:c.1115+1397G>T
ENST00000434366.5:n.366-15573G>T
ENST00000456171.5:c.1035+1397G>T	ENSP00000416311.1:n.1035+1397G>T
ENST00000491126.6:n.226-15573G>T
ENST00000493868.5:n.2820+1397G>T
ENST00000629362.2:c.1194+1397G>T	ENSP00000487041.2:n.1194+1397G>T
NM_001278458.1:c.1194+1397G>T	NP_001265387.1:n.1194+1397G>T
NM_001278460.1:c.1134+1397G>T	NP_001265389.1:n.1134+1397G>T
NM_001278461.1:c.996+1397G>T	NP_001265390.1:n.996+1397G>T
NM_014900.4:c.996+1397G>T	NP_055715.3:n.996+1397G>T
NM_001365670.1:c.1134+1397G>T	NP_001352599.1:n.1134+1397G>T
NM_001365671.1:c.1173+1397G>T	NP_001352600.1:n.1173+1397G>T
NM_001365672.1:c.996+1397G>T	NP_001352601.1:n.996+1397G>T
NM_001365673.1:c.996+1397G>T	NP_001352602.1:n.996+1397G>T
NM_001365674.1:c.1035+1397G>T	NP_001352603.1:n.1035+1397G>T
NM_001365675.1:c.1035+1397G>T	NP_001352604.1:n.1035+1397G>T
NM_001278458.2:c.1194+1397G>T	NP_001265387.1:n.1194+1397G>T
NM_001278460.2:c.1134+1397G>T	NP_001265389.1:n.1134+1397G>T
NM_001278461.2:c.996+1397G>T	NP_001265390.1:n.996+1397G>T
NM_001365670.2:c.1134+1397G>T	NP_001352599.1:n.1134+1397G>T
NM_001365672.2:c.996+1397G>T MANE Select	NP_001352601.1:n.996+1397G>T
NM_001365673.2:c.996+1397G>T	NP_001352602.1:n.996+1397G>T
NM_001365674.2:c.1035+1397G>T	NP_001352603.1:n.1035+1397G>T
NM_001365675.2:c.1035+1397G>T	NP_001352604.1:n.1035+1397G>T
NM_014900.5:c.996+1397G>T	NP_055715.3:n.996+1397G>T