Canonical Allele Identifier: CA140869581

Gene: COL9A1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70255375G>T , CM000668.2:g.70255375G>T	GRCh38
NC_000006.11:g.70965078G>T , CM000668.1:g.70965078G>T	GRCh37
NC_000006.10:g.71021799G>T	NCBI36
NG_011654.1:g.52709C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.790C>A	ENSP00000506990.1:p.Arg264=
ENST00000360859.12:n.205C>A
ENST00000493682.7:n.1513C>A
ENST00000683602.1:n.2256C>A
ENST00000683758.1:c.790C>A	ENSP00000508147.1:p.Arg264=
ENST00000683980.1:c.790C>A	ENSP00000506990.1:p.Arg264=
ENST00000684176.1:n.861C>A
ENST00000320755.12:c.790C>A	ENSP00000315252.7:p.Arg264=
ENST00000357250.11:c.1519C>A MANE Select	ENSP00000349790.6:p.Arg507=
ENST00000360859.11:n.205C>A
ENST00000644493.1:c.*556C>A	ENSP00000495638.1:n.*556C>A
ENST00000320755.11:c.790C>A	ENSP00000315252.7:p.Arg264=
ENST00000357250.10:c.1519C>A	ENSP00000349790.6:p.Arg507=
ENST00000360859.10:n.165C>A
ENST00000489611.5:n.611C>A
ENST00000493682.6:n.492C>A
NM_001851.4:c.1519C>A	NP_001842.3:p.Arg507=
NM_078485.3:c.790C>A	NP_511040.2:p.Arg264=
XM_011535429.1:c.1519C>A	XP_011533731.1:p.Arg507=
XM_011535430.1:c.790C>A	XP_011533732.1:p.Arg264=
XM_011535431.1:c.181C>A	XP_011533733.1:p.Arg61=
XM_011535429.3:c.1519C>A	XP_011533731.1:p.Arg507=
XM_011535430.3:c.790C>A	XP_011533732.1:p.Arg264=
XM_017010246.2:c.970C>A	XP_016865735.1:p.Arg324=
XM_017010247.2:c.238C>A	XP_016865736.1:p.Arg80=
NM_001377289.1:c.790C>A	NP_001364218.1:p.Arg264=
NM_001377290.1:c.790C>A	NP_001364219.1:p.Arg264=
NM_001851.5:c.1519C>A	NP_001842.3:p.Arg507=
NM_078485.4:c.790C>A	NP_511040.2:p.Arg264=
NR_165185.1:n.1040C>A
NM_001851.6:c.1519C>A MANE Select	NP_001842.3:p.Arg507=