Canonical Allele Identifier: CA273005

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 161449
• ClinVar RCV Id: RCV000148951 ; RCV001382407 ; RCV002277296
• dbSNP Id: rs189754995
• gnomAD v3: 6-70255375-G-A
• gnomAD v4: 6-70255375-G-A
• MyVariant Identifiers: chr6:g.70965078G>A (hg19) ; chr6:g.70255375G>A (hg38)
• PubMed: PMID:21421862

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.790C>T	ENSP00000506990.1:p.Arg264Ter
ENST00000360859.12:n.205C>T
ENST00000493682.7:n.1513C>T
ENST00000683602.1:n.2256C>T
ENST00000683758.1:c.790C>T	ENSP00000508147.1:p.Arg264Ter
ENST00000683980.1:c.790C>T	ENSP00000506990.1:p.Arg264Ter
ENST00000684176.1:n.861C>T
ENST00000320755.12:c.790C>T	ENSP00000315252.7:p.Arg264Ter
ENST00000357250.11:c.1519C>T MANE Select	ENSP00000349790.6:p.Arg507Ter
ENST00000360859.11:n.205C>T
ENST00000644493.1:c.*556C>T	ENSP00000495638.1:n.*556C>T
ENST00000320755.11:c.790C>T	ENSP00000315252.7:p.Arg264Ter
ENST00000357250.10:c.1519C>T	ENSP00000349790.6:p.Arg507Ter
ENST00000360859.10:n.165C>T
ENST00000489611.5:n.611C>T
ENST00000493682.6:n.492C>T
NM_001851.4:c.1519C>T	NP_001842.3:p.Arg507Ter
NM_078485.3:c.790C>T	NP_511040.2:p.Arg264Ter
XM_011535429.1:c.1519C>T	XP_011533731.1:p.Arg507Ter
XM_011535430.1:c.790C>T	XP_011533732.1:p.Arg264Ter
XM_011535431.1:c.181C>T	XP_011533733.1:p.Arg61Ter
XM_011535429.3:c.1519C>T	XP_011533731.1:p.Arg507Ter
XM_011535430.3:c.790C>T	XP_011533732.1:p.Arg264Ter
XM_017010246.2:c.970C>T	XP_016865735.1:p.Arg324Ter
XM_017010247.2:c.238C>T	XP_016865736.1:p.Arg80Ter
NM_001377289.1:c.790C>T	NP_001364218.1:p.Arg264Ter
NM_001377290.1:c.790C>T	NP_001364219.1:p.Arg264Ter
NM_001851.5:c.1519C>T	NP_001842.3:p.Arg507Ter
NM_078485.4:c.790C>T	NP_511040.2:p.Arg264Ter
NR_165185.1:n.1040C>T
NM_001851.6:c.1519C>T MANE Select	NP_001842.3:p.Arg507Ter