Canonical Allele Identifier: CA3881763

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70232616G>T , CM000668.2:g.70232616G>T	GRCh38
NC_000006.11:g.70942319G>T , CM000668.1:g.70942319G>T	GRCh37
NC_000006.10:g.70999040G>T	NCBI36
NG_011654.1:g.75468C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2470C>A MANE Select	NP_001842.3:p.Pro824Thr
ENST00000357250.11:c.2470C>A MANE Select	ENSP00000349790.6:p.Pro824Thr
NM_001377289.1:c.1771C>A	NP_001364218.1:p.Pro591Thr
NM_001377290.1:c.1594C>A	NP_001364219.1:p.Pro532Thr
NM_001851.4:c.2470C>A	NP_001842.3:p.Pro824Thr
NM_001851.5:c.2470C>A	NP_001842.3:p.Pro824Thr
NM_078485.3:c.1741C>A	NP_511040.2:p.Pro581Thr
NM_078485.4:c.1741C>A	NP_511040.2:p.Pro581Thr
NR_165185.1:n.1991C>A
ENST00000320755.11:c.1741C>A	ENSP00000315252.7:p.Pro581Thr
ENST00000320755.12:c.1741C>A	ENSP00000315252.7:p.Pro581Thr
ENST00000357250.10:c.2470C>A	ENSP00000349790.6:p.Pro824Thr
ENST00000360859.11:n.1156C>A
ENST00000360859.12:n.1156C>A
ENST00000486080.5:n.1175C>A
ENST00000489611.5:n.1490C>A
ENST00000493682.7:n.2464C>A
ENST00000644493.1:c.*1507C>A	ENSP00000495638.1:n.*1507C>A
ENST00000682313.1:n.1520C>A
ENST00000683602.1:n.3207C>A
ENST00000683758.1:c.1603C>A	ENSP00000508147.1:p.Pro535Thr
ENST00000683980.1:c.1771C>A	ENSP00000506990.1:p.Pro591Thr
ENST00000683980.2:c.1771C>A	ENSP00000506990.1:p.Pro591Thr
ENST00000684176.1:n.1812C>A
XM_011535429.1:c.2500C>A	XP_011533731.1:p.Pro834Thr
XM_011535429.3:c.2500C>A	XP_011533731.1:p.Pro834Thr
XM_011535430.1:c.1771C>A	XP_011533732.1:p.Pro591Thr
XM_011535430.3:c.1771C>A	XP_011533732.1:p.Pro591Thr
XM_011535431.1:c.1162C>A	XP_011533733.1:p.Pro388Thr
XM_017010246.2:c.1951C>A	XP_016865735.1:p.Pro651Thr
XM_017010247.2:c.1219C>A	XP_016865736.1:p.Pro407Thr