Canonical Allele Identifier: CA3881737

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70225960G>A , CM000668.2:g.70225960G>A	GRCh38
NC_000006.11:g.70935663G>A , CM000668.1:g.70935663G>A	GRCh37
NC_000006.10:g.70992384G>A	NCBI36
NG_011654.1:g.82124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1854C>T	ENSP00000506990.1:p.Asn618=
ENST00000360859.12:n.1239C>T
ENST00000493682.7:n.2547C>T
ENST00000682313.1:n.1603C>T
ENST00000683602.1:n.3290C>T
ENST00000683758.1:c.1686C>T	ENSP00000508147.1:p.Asn562=
ENST00000683980.1:c.1854C>T	ENSP00000506990.1:p.Asn618=
ENST00000684176.1:n.1895C>T
ENST00000320755.12:c.1824C>T	ENSP00000315252.7:p.Asn608=
ENST00000357250.11:c.2553C>T MANE Select	ENSP00000349790.6:p.Asn851=
ENST00000360859.11:n.1239C>T
ENST00000644493.1:c.*1590C>T	ENSP00000495638.1:n.*1590C>T
ENST00000320755.11:c.1824C>T	ENSP00000315252.7:p.Asn608=
ENST00000357250.10:c.2553C>T	ENSP00000349790.6:p.Asn851=
ENST00000486080.5:n.1258C>T
ENST00000489611.5:n.1573C>T
NM_001851.4:c.2553C>T	NP_001842.3:p.Asn851=
NM_078485.3:c.1824C>T	NP_511040.2:p.Asn608=
XM_011535429.1:c.2583C>T	XP_011533731.1:p.Asn861=
XM_011535430.1:c.1854C>T	XP_011533732.1:p.Asn618=
XM_011535431.1:c.1245C>T	XP_011533733.1:p.Asn415=
XM_011535429.3:c.2583C>T	XP_011533731.1:p.Asn861=
XM_011535430.3:c.1854C>T	XP_011533732.1:p.Asn618=
XM_017010246.2:c.2034C>T	XP_016865735.1:p.Asn678=
XM_017010247.2:c.1302C>T	XP_016865736.1:p.Asn434=
NM_001377289.1:c.1854C>T	NP_001364218.1:p.Asn618=
NM_001377290.1:c.1677C>T	NP_001364219.1:p.Asn559=
NM_001851.5:c.2553C>T	NP_001842.3:p.Asn851=
NM_078485.4:c.1824C>T	NP_511040.2:p.Asn608=
NR_165185.1:n.2074C>T
NM_001851.6:c.2553C>T MANE Select	NP_001842.3:p.Asn851=