Canonical Allele Identifier: CA244879

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 197002
• ClinVar RCV Id: RCV000177905 ; RCV000724315 ; RCV002277396
• dbSNP Id: rs1135057
• ExAC: 6:70935654 A / G
• gnomAD v2: 6-70935654-A-G
• gnomAD v3: 6-70225951-A-G
• gnomAD v4: 6-70225951-A-G
• MyVariant Identifiers: chr6:g.70935654A>G (hg19) ; chr6:g.70225951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70225951A>G , CM000668.2:g.70225951A>G	GRCh38
NC_000006.11:g.70935654A>G , CM000668.1:g.70935654A>G	GRCh37
NC_000006.10:g.70992375A>G	NCBI36
NG_011654.1:g.82133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1863T>C	ENSP00000506990.1:p.Pro621=
ENST00000360859.12:n.1248T>C
ENST00000493682.7:n.2556T>C
ENST00000682313.1:n.1612T>C
ENST00000683602.1:n.3299T>C
ENST00000683758.1:c.1695T>C	ENSP00000508147.1:p.Pro565=
ENST00000683980.1:c.1863T>C	ENSP00000506990.1:p.Pro621=
ENST00000684176.1:n.1904T>C
ENST00000320755.12:c.1833T>C	ENSP00000315252.7:p.Pro611=
ENST00000357250.11:c.2562T>C MANE Select	ENSP00000349790.6:p.Pro854=
ENST00000360859.11:n.1248T>C
ENST00000644493.1:c.*1599T>C	ENSP00000495638.1:n.*1599T>C
ENST00000320755.11:c.1833T>C	ENSP00000315252.7:p.Pro611=
ENST00000357250.10:c.2562T>C	ENSP00000349790.6:p.Pro854=
ENST00000486080.5:n.1267T>C
ENST00000489611.5:n.1582T>C
NM_001851.4:c.2562T>C	NP_001842.3:p.Pro854=
NM_078485.3:c.1833T>C	NP_511040.2:p.Pro611=
XM_011535429.1:c.2592T>C	XP_011533731.1:p.Pro864=
XM_011535430.1:c.1863T>C	XP_011533732.1:p.Pro621=
XM_011535431.1:c.1254T>C	XP_011533733.1:p.Pro418=
XM_011535429.3:c.2592T>C	XP_011533731.1:p.Pro864=
XM_011535430.3:c.1863T>C	XP_011533732.1:p.Pro621=
XM_017010246.2:c.2043T>C	XP_016865735.1:p.Pro681=
XM_017010247.2:c.1311T>C	XP_016865736.1:p.Pro437=
NM_001377289.1:c.1863T>C	NP_001364218.1:p.Pro621=
NM_001377290.1:c.1686T>C	NP_001364219.1:p.Pro562=
NM_001851.5:c.2562T>C	NP_001842.3:p.Pro854=
NM_078485.4:c.1833T>C	NP_511040.2:p.Pro611=
NR_165185.1:n.2083T>C
NM_001851.6:c.2562T>C MANE Select	NP_001842.3:p.Pro854=