Canonical Allele Identifier: CA12239637

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70232957T>G , CM000668.2:g.70232957T>G	GRCh38
NC_000006.11:g.70942660T>G , CM000668.1:g.70942660T>G	GRCh37
NC_000006.10:g.70999381T>G	NCBI36
NG_011654.1:g.75127A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2315-186A>C MANE Select	NP_001842.3:n.2315-186A>C
ENST00000357250.11:c.2315-186A>C MANE Select	ENSP00000349790.6:n.2315-186A>C
NM_001377289.1:c.1616-186A>C	NP_001364218.1:n.1616-186A>C
NM_001377290.1:c.1439-186A>C	NP_001364219.1:n.1439-186A>C
NM_001851.4:c.2315-186A>C	NP_001842.3:n.2315-186A>C
NM_001851.5:c.2315-186A>C	NP_001842.3:n.2315-186A>C
NM_078485.3:c.1586-186A>C	NP_511040.2:n.1586-186A>C
NM_078485.4:c.1586-186A>C	NP_511040.2:n.1586-186A>C
NR_165185.1:n.1836-186A>C
ENST00000320755.11:c.1586-186A>C	ENSP00000315252.7:n.1586-186A>C
ENST00000320755.12:c.1586-186A>C	ENSP00000315252.7:n.1586-186A>C
ENST00000357250.10:c.2315-186A>C	ENSP00000349790.6:n.2315-186A>C
ENST00000360859.11:n.1001-186A>C
ENST00000360859.12:n.1001-186A>C
ENST00000486080.5:n.1020-186A>C
ENST00000489611.5:n.1335-186A>C
ENST00000493682.7:n.2309-186A>C
ENST00000644493.1:c.*1352-186A>C	ENSP00000495638.1:n.*1352-186A>C
ENST00000682313.1:n.1365-186A>C
ENST00000683602.1:n.3052-186A>C
ENST00000683758.1:c.1448-186A>C	ENSP00000508147.1:n.1448-186A>C
ENST00000683980.1:c.1616-186A>C	ENSP00000506990.1:n.1616-186A>C
ENST00000683980.2:c.1616-186A>C	ENSP00000506990.1:n.1616-186A>C
ENST00000684176.1:n.1657-186A>C
XM_011535429.1:c.2345-186A>C	XP_011533731.1:n.2345-186A>C
XM_011535429.3:c.2345-186A>C	XP_011533731.1:n.2345-186A>C
XM_011535430.1:c.1616-186A>C	XP_011533732.1:n.1616-186A>C
XM_011535430.3:c.1616-186A>C	XP_011533732.1:n.1616-186A>C
XM_011535431.1:c.1007-186A>C	XP_011533733.1:n.1007-186A>C
XM_017010246.2:c.1796-186A>C	XP_016865735.1:n.1796-186A>C
XM_017010247.2:c.1064-186A>C	XP_016865736.1:n.1064-186A>C