Canonical Allele Identifier: CA233850

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70234813G>C , CM000668.2:g.70234813G>C	GRCh38
NC_000006.11:g.70944516G>C , CM000668.1:g.70944516G>C	GRCh37
NC_000006.10:g.71001237G>C	NCBI36
NG_011654.1:g.73271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1541C>G	ENSP00000506990.1:p.Pro514Arg
ENST00000360859.12:n.926C>G
ENST00000493682.7:n.2234C>G
ENST00000682313.1:n.1290C>G
ENST00000683602.1:n.2977C>G
ENST00000683758.1:c.1393-220C>G	ENSP00000508147.1:n.1393-220C>G
ENST00000683980.1:c.1541C>G	ENSP00000506990.1:p.Pro514Arg
ENST00000684176.1:n.1582C>G
ENST00000320755.12:c.1511C>G	ENSP00000315252.7:p.Pro504Arg
ENST00000357250.11:c.2240C>G MANE Select	ENSP00000349790.6:p.Pro747Arg
ENST00000360859.11:n.926C>G
ENST00000644493.1:c.*1277C>G	ENSP00000495638.1:n.*1277C>G
ENST00000320755.11:c.1511C>G	ENSP00000315252.7:p.Pro504Arg
ENST00000357250.10:c.2240C>G	ENSP00000349790.6:p.Pro747Arg
ENST00000447041.6:n.637C>G
ENST00000486080.5:n.945C>G
ENST00000489611.5:n.1260C>G
NM_001851.4:c.2240C>G	NP_001842.3:p.Pro747Arg
NM_078485.3:c.1511C>G	NP_511040.2:p.Pro504Arg
XM_011535429.1:c.2270C>G	XP_011533731.1:p.Pro757Arg
XM_011535430.1:c.1541C>G	XP_011533732.1:p.Pro514Arg
XM_011535431.1:c.932C>G	XP_011533733.1:p.Pro311Arg
XM_011535429.3:c.2270C>G	XP_011533731.1:p.Pro757Arg
XM_011535430.3:c.1541C>G	XP_011533732.1:p.Pro514Arg
XM_017010246.2:c.1721C>G	XP_016865735.1:p.Pro574Arg
XM_017010247.2:c.989C>G	XP_016865736.1:p.Pro330Arg
NM_001377289.1:c.1541C>G	NP_001364218.1:p.Pro514Arg
NM_001377290.1:c.1384-220C>G	NP_001364219.1:n.1384-220C>G
NM_001851.5:c.2240C>G	NP_001842.3:p.Pro747Arg
NM_078485.4:c.1511C>G	NP_511040.2:p.Pro504Arg
NR_165185.1:n.1761C>G
NM_001851.6:c.2240C>G MANE Select	NP_001842.3:p.Pro747Arg