Canonical Allele Identifier: CA3881839

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70234895G>A , CM000668.2:g.70234895G>A	GRCh38
NC_000006.11:g.70944598G>A , CM000668.1:g.70944598G>A	GRCh37
NC_000006.10:g.71001319G>A	NCBI36
NG_011654.1:g.73189C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2158C>T MANE Select	NP_001842.3:p.Arg720Trp
ENST00000357250.11:c.2158C>T MANE Select	ENSP00000349790.6:p.Arg720Trp
NM_001377289.1:c.1459C>T	NP_001364218.1:p.Arg487Trp
NM_001377290.1:c.1384-302C>T	NP_001364219.1:n.1384-302C>T
NM_001851.4:c.2158C>T	NP_001842.3:p.Arg720Trp
NM_001851.5:c.2158C>T	NP_001842.3:p.Arg720Trp
NM_078485.3:c.1429C>T	NP_511040.2:p.Arg477Trp
NM_078485.4:c.1429C>T	NP_511040.2:p.Arg477Trp
NR_165185.1:n.1679C>T
ENST00000320755.11:c.1429C>T	ENSP00000315252.7:p.Arg477Trp
ENST00000320755.12:c.1429C>T	ENSP00000315252.7:p.Arg477Trp
ENST00000357250.10:c.2158C>T	ENSP00000349790.6:p.Arg720Trp
ENST00000360859.11:n.844C>T
ENST00000360859.12:n.844C>T
ENST00000447041.6:n.555C>T
ENST00000486080.5:n.863C>T
ENST00000489611.5:n.1178C>T
ENST00000493682.7:n.2152C>T
ENST00000644493.1:c.*1195C>T	ENSP00000495638.1:n.*1195C>T
ENST00000682313.1:n.1208C>T
ENST00000683602.1:n.2895C>T
ENST00000683758.1:c.1393-302C>T	ENSP00000508147.1:n.1393-302C>T
ENST00000683980.1:c.1459C>T	ENSP00000506990.1:p.Arg487Trp
ENST00000683980.2:c.1459C>T	ENSP00000506990.1:p.Arg487Trp
ENST00000684176.1:n.1500C>T
XM_011535429.1:c.2188C>T	XP_011533731.1:p.Arg730Trp
XM_011535429.3:c.2188C>T	XP_011533731.1:p.Arg730Trp
XM_011535430.1:c.1459C>T	XP_011533732.1:p.Arg487Trp
XM_011535430.3:c.1459C>T	XP_011533732.1:p.Arg487Trp
XM_011535431.1:c.850C>T	XP_011533733.1:p.Arg284Trp
XM_017010246.2:c.1639C>T	XP_016865735.1:p.Arg547Trp
XM_017010247.2:c.907C>T	XP_016865736.1:p.Arg303Trp