Canonical Allele Identifier: CA364668082

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70217046G>A , CM000668.2:g.70217046G>A	GRCh38
NC_000006.11:g.70926749G>A , CM000668.1:g.70926749G>A	GRCh37
NC_000006.10:g.70983470G>A	NCBI36
NG_011654.1:g.91038C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2617C>T MANE Select	NP_001842.3:p.Arg873Ter
ENST00000357250.11:c.2617C>T MANE Select	ENSP00000349790.6:p.Arg873Ter
NM_001377289.1:c.1918C>T	NP_001364218.1:p.Arg640Ter
NM_001377290.1:c.1741C>T	NP_001364219.1:p.Arg581Ter
NM_001851.4:c.2617C>T	NP_001842.3:p.Arg873Ter
NM_001851.5:c.2617C>T	NP_001842.3:p.Arg873Ter
NM_078485.3:c.1888C>T	NP_511040.2:p.Arg630Ter
NM_078485.4:c.1888C>T	NP_511040.2:p.Arg630Ter
NR_165185.1:n.2138C>T
ENST00000320755.11:c.1888C>T	ENSP00000315252.7:p.Arg630Ter
ENST00000320755.12:c.1888C>T	ENSP00000315252.7:p.Arg630Ter
ENST00000357250.10:c.2617C>T	ENSP00000349790.6:p.Arg873Ter
ENST00000360859.11:n.1303C>T
ENST00000360859.12:n.1303C>T
ENST00000486080.5:n.1322C>T
ENST00000489611.5:n.1637C>T
ENST00000493682.7:n.2611C>T
ENST00000644493.1:c.*1654C>T	ENSP00000495638.1:n.*1654C>T
ENST00000682313.1:n.1667C>T
ENST00000683602.1:n.3354C>T
ENST00000683758.1:c.1750C>T	ENSP00000508147.1:p.Arg584Ter
ENST00000683980.1:c.1918C>T	ENSP00000506990.1:p.Arg640Ter
ENST00000683980.2:c.1918C>T	ENSP00000506990.1:p.Arg640Ter
ENST00000684176.1:n.1959C>T
XM_011535429.1:c.2647C>T	XP_011533731.1:p.Arg883Ter
XM_011535429.3:c.2647C>T	XP_011533731.1:p.Arg883Ter
XM_011535430.1:c.1918C>T	XP_011533732.1:p.Arg640Ter
XM_011535430.3:c.1918C>T	XP_011533732.1:p.Arg640Ter
XM_011535431.1:c.1309C>T	XP_011533733.1:p.Arg437Ter
XM_017010246.2:c.2098C>T	XP_016865735.1:p.Arg700Ter
XM_017010247.2:c.1366C>T	XP_016865736.1:p.Arg456Ter