Canonical Allele Identifier: CA3882131

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70255199G>A , CM000668.2:g.70255199G>A	GRCh38
NC_000006.11:g.70964902G>A , CM000668.1:g.70964902G>A	GRCh37
NC_000006.10:g.71021623G>A	NCBI36
NG_011654.1:g.52885C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.1562C>T MANE Select	NP_001842.3:p.Ala521Val
ENST00000357250.11:c.1562C>T MANE Select	ENSP00000349790.6:p.Ala521Val
NM_001377289.1:c.833C>T	NP_001364218.1:p.Ala278Val
NM_001377290.1:c.833C>T	NP_001364219.1:p.Ala278Val
NM_001851.4:c.1562C>T	NP_001842.3:p.Ala521Val
NM_001851.5:c.1562C>T	NP_001842.3:p.Ala521Val
NM_078485.3:c.833C>T	NP_511040.2:p.Ala278Val
NM_078485.4:c.833C>T	NP_511040.2:p.Ala278Val
NR_165185.1:n.1083C>T
ENST00000320755.11:c.833C>T	ENSP00000315252.7:p.Ala278Val
ENST00000320755.12:c.833C>T	ENSP00000315252.7:p.Ala278Val
ENST00000357250.10:c.1562C>T	ENSP00000349790.6:p.Ala521Val
ENST00000360859.10:n.208C>T
ENST00000360859.11:n.248C>T
ENST00000360859.12:n.248C>T
ENST00000489611.5:n.654C>T
ENST00000493682.6:n.535C>T
ENST00000493682.7:n.1556C>T
ENST00000644493.1:c.*599C>T	ENSP00000495638.1:n.*599C>T
ENST00000683602.1:n.2299C>T
ENST00000683758.1:c.833C>T	ENSP00000508147.1:p.Ala278Val
ENST00000683980.1:c.833C>T	ENSP00000506990.1:p.Ala278Val
ENST00000683980.2:c.833C>T	ENSP00000506990.1:p.Ala278Val
ENST00000684176.1:n.904C>T
XM_011535429.1:c.1562C>T	XP_011533731.1:p.Ala521Val
XM_011535429.3:c.1562C>T	XP_011533731.1:p.Ala521Val
XM_011535430.1:c.833C>T	XP_011533732.1:p.Ala278Val
XM_011535430.3:c.833C>T	XP_011533732.1:p.Ala278Val
XM_011535431.1:c.224C>T	XP_011533733.1:p.Ala75Val
XM_017010246.2:c.1013C>T	XP_016865735.1:p.Ala338Val
XM_017010247.2:c.281C>T	XP_016865736.1:p.Ala94Val