Canonical Allele Identifier: CA10605983

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70217073C>T , CM000668.2:g.70217073C>T	GRCh38
NC_000006.11:g.70926776C>T , CM000668.1:g.70926776C>T	GRCh37
NC_000006.10:g.70983497C>T	NCBI36
NG_011654.1:g.91011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1891G>A	ENSP00000506990.1:p.Gly631Ser
ENST00000360859.12:n.1276G>A
ENST00000493682.7:n.2584G>A
ENST00000682313.1:n.1640G>A
ENST00000683602.1:n.3327G>A
ENST00000683758.1:c.1723G>A	ENSP00000508147.1:p.Gly575Ser
ENST00000683980.1:c.1891G>A	ENSP00000506990.1:p.Gly631Ser
ENST00000684176.1:n.1932G>A
ENST00000320755.12:c.1861G>A	ENSP00000315252.7:p.Gly621Ser
ENST00000357250.11:c.2590G>A MANE Select	ENSP00000349790.6:p.Gly864Ser
ENST00000360859.11:n.1276G>A
ENST00000644493.1:c.*1627G>A	ENSP00000495638.1:n.*1627G>A
ENST00000320755.11:c.1861G>A	ENSP00000315252.7:p.Gly621Ser
ENST00000357250.10:c.2590G>A	ENSP00000349790.6:p.Gly864Ser
ENST00000486080.5:n.1295G>A
ENST00000489611.5:n.1610G>A
NM_001851.4:c.2590G>A	NP_001842.3:p.Gly864Ser
NM_078485.3:c.1861G>A	NP_511040.2:p.Gly621Ser
XM_011535429.1:c.2620G>A	XP_011533731.1:p.Gly874Ser
XM_011535430.1:c.1891G>A	XP_011533732.1:p.Gly631Ser
XM_011535431.1:c.1282G>A	XP_011533733.1:p.Gly428Ser
XM_011535429.3:c.2620G>A	XP_011533731.1:p.Gly874Ser
XM_011535430.3:c.1891G>A	XP_011533732.1:p.Gly631Ser
XM_017010246.2:c.2071G>A	XP_016865735.1:p.Gly691Ser
XM_017010247.2:c.1339G>A	XP_016865736.1:p.Gly447Ser
NM_001377289.1:c.1891G>A	NP_001364218.1:p.Gly631Ser
NM_001377290.1:c.1714G>A	NP_001364219.1:p.Gly572Ser
NM_001851.5:c.2590G>A	NP_001842.3:p.Gly864Ser
NM_078485.4:c.1861G>A	NP_511040.2:p.Gly621Ser
NR_165185.1:n.2111G>A
NM_001851.6:c.2590G>A MANE Select	NP_001842.3:p.Gly864Ser