Canonical Allele Identifier: CA364668055

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70217033C>T , CM000668.2:g.70217033C>T	GRCh38
NC_000006.11:g.70926736C>T , CM000668.1:g.70926736C>T	GRCh37
NC_000006.10:g.70983457C>T	NCBI36
NG_011654.1:g.91051G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2630G>A MANE Select	NP_001842.3:p.Arg877Gln
ENST00000357250.11:c.2630G>A MANE Select	ENSP00000349790.6:p.Arg877Gln
NM_001377289.1:c.1931G>A	NP_001364218.1:p.Arg644Gln
NM_001377290.1:c.1754G>A	NP_001364219.1:p.Arg585Gln
NM_001851.4:c.2630G>A	NP_001842.3:p.Arg877Gln
NM_001851.5:c.2630G>A	NP_001842.3:p.Arg877Gln
NM_078485.3:c.1901G>A	NP_511040.2:p.Arg634Gln
NM_078485.4:c.1901G>A	NP_511040.2:p.Arg634Gln
NR_165185.1:n.2151G>A
ENST00000320755.11:c.1901G>A	ENSP00000315252.7:p.Arg634Gln
ENST00000320755.12:c.1901G>A	ENSP00000315252.7:p.Arg634Gln
ENST00000357250.10:c.2630G>A	ENSP00000349790.6:p.Arg877Gln
ENST00000360859.11:n.1316G>A
ENST00000360859.12:n.1316G>A
ENST00000486080.5:n.1335G>A
ENST00000489611.5:n.1650G>A
ENST00000493682.7:n.2624G>A
ENST00000644493.1:c.*1667G>A	ENSP00000495638.1:n.*1667G>A
ENST00000682313.1:n.1680G>A
ENST00000683602.1:n.3367G>A
ENST00000683758.1:c.1763G>A	ENSP00000508147.1:p.Arg588Gln
ENST00000683980.1:c.1931G>A	ENSP00000506990.1:p.Arg644Gln
ENST00000683980.2:c.1931G>A	ENSP00000506990.1:p.Arg644Gln
ENST00000684176.1:n.1972G>A
XM_011535429.1:c.2660G>A	XP_011533731.1:p.Arg887Gln
XM_011535429.3:c.2660G>A	XP_011533731.1:p.Arg887Gln
XM_011535430.1:c.1931G>A	XP_011533732.1:p.Arg644Gln
XM_011535430.3:c.1931G>A	XP_011533732.1:p.Arg644Gln
XM_011535431.1:c.1322G>A	XP_011533733.1:p.Arg441Gln
XM_017010246.2:c.2111G>A	XP_016865735.1:p.Arg704Gln
XM_017010247.2:c.1379G>A	XP_016865736.1:p.Arg460Gln