Canonical Allele Identifier: CA179927

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70234582C>T , CM000668.2:g.70234582C>T	GRCh38
NC_000006.11:g.70944285C>T , CM000668.1:g.70944285C>T	GRCh37
NC_000006.10:g.71001006C>T	NCBI36
NG_011654.1:g.73502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1572G>A	ENSP00000506990.1:p.Pro524=
ENST00000360859.12:n.957G>A
ENST00000493682.7:n.2265G>A
ENST00000682313.1:n.1321G>A
ENST00000683602.1:n.3008G>A
ENST00000683758.1:c.1404G>A	ENSP00000508147.1:p.Pro468=
ENST00000683980.1:c.1572G>A	ENSP00000506990.1:p.Pro524=
ENST00000684176.1:n.1613G>A
ENST00000320755.12:c.1542G>A	ENSP00000315252.7:p.Pro514=
ENST00000357250.11:c.2271G>A MANE Select	ENSP00000349790.6:p.Pro757=
ENST00000360859.11:n.957G>A
ENST00000644493.1:c.*1308G>A	ENSP00000495638.1:n.*1308G>A
ENST00000320755.11:c.1542G>A	ENSP00000315252.7:p.Pro514=
ENST00000357250.10:c.2271G>A	ENSP00000349790.6:p.Pro757=
ENST00000447041.6:n.668G>A
ENST00000486080.5:n.976G>A
ENST00000489611.5:n.1291G>A
NM_001851.4:c.2271G>A	NP_001842.3:p.Pro757=
NM_078485.3:c.1542G>A	NP_511040.2:p.Pro514=
XM_011535429.1:c.2301G>A	XP_011533731.1:p.Pro767=
XM_011535430.1:c.1572G>A	XP_011533732.1:p.Pro524=
XM_011535431.1:c.963G>A	XP_011533733.1:p.Pro321=
XM_011535429.3:c.2301G>A	XP_011533731.1:p.Pro767=
XM_011535430.3:c.1572G>A	XP_011533732.1:p.Pro524=
XM_017010246.2:c.1752G>A	XP_016865735.1:p.Pro584=
XM_017010247.2:c.1020G>A	XP_016865736.1:p.Pro340=
NM_001377289.1:c.1572G>A	NP_001364218.1:p.Pro524=
NM_001377290.1:c.1395G>A	NP_001364219.1:p.Pro465=
NM_001851.5:c.2271G>A	NP_001842.3:p.Pro757=
NM_078485.4:c.1542G>A	NP_511040.2:p.Pro514=
NR_165185.1:n.1792G>A
NM_001851.6:c.2271G>A MANE Select	NP_001842.3:p.Pro757=