Canonical Allele Identifier: CA364678549

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70256822C>A , CM000668.2:g.70256822C>A	GRCh38
NC_000006.11:g.70966525C>A , CM000668.1:g.70966525C>A	GRCh37
NC_000006.10:g.71023246C>A	NCBI36
NG_011654.1:g.51262G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.1450-1G>T MANE Select	NP_001842.3:n.1450-1G>T
ENST00000357250.11:c.1450-1G>T MANE Select	ENSP00000349790.6:n.1450-1G>T
NM_001377289.1:c.721-1G>T	NP_001364218.1:n.721-1G>T
NM_001377290.1:c.721-1G>T	NP_001364219.1:n.721-1G>T
NM_001851.4:c.1450-1G>T	NP_001842.3:n.1450-1G>T
NM_001851.5:c.1450-1G>T	NP_001842.3:n.1450-1G>T
NM_078485.3:c.721-1G>T	NP_511040.2:n.721-1G>T
NM_078485.4:c.721-1G>T	NP_511040.2:n.721-1G>T
NR_165185.1:n.971-1G>T
ENST00000320755.11:c.721-1G>T	ENSP00000315252.7:n.721-1G>T
ENST00000320755.12:c.721-1G>T	ENSP00000315252.7:n.721-1G>T
ENST00000357250.10:c.1450-1G>T	ENSP00000349790.6:n.1450-1G>T
ENST00000360859.10:n.96-1G>T
ENST00000360859.11:n.136-1G>T
ENST00000360859.12:n.136-1G>T
ENST00000489611.5:n.542-1G>T
ENST00000493682.6:n.423-1G>T
ENST00000493682.7:n.1444-1G>T
ENST00000644493.1:c.*487-1G>T	ENSP00000495638.1:n.*487-1G>T
ENST00000683602.1:n.2187-1G>T
ENST00000683758.1:c.721-1G>T	ENSP00000508147.1:n.721-1G>T
ENST00000683980.1:c.721-1G>T	ENSP00000506990.1:n.721-1G>T
ENST00000683980.2:c.721-1G>T	ENSP00000506990.1:n.721-1G>T
ENST00000684176.1:n.792-1G>T
XM_011535429.1:c.1450-1G>T	XP_011533731.1:n.1450-1G>T
XM_011535429.3:c.1450-1G>T	XP_011533731.1:n.1450-1G>T
XM_011535430.1:c.721-1G>T	XP_011533732.1:n.721-1G>T
XM_011535430.3:c.721-1G>T	XP_011533732.1:n.721-1G>T
XM_011535431.1:c.112-1G>T	XP_011533733.1:n.112-1G>T
XM_017010246.2:c.901-1G>T	XP_016865735.1:n.901-1G>T
XM_017010247.2:c.169-1G>T	XP_016865736.1:n.169-1G>T