Canonical Allele Identifier: CA3881803

Gene: COL9A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70234554T>C , CM000668.2:g.70234554T>C	GRCh38
NC_000006.11:g.70944257T>C , CM000668.1:g.70944257T>C	GRCh37
NC_000006.10:g.71000978T>C	NCBI36
NG_011654.1:g.73530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1600A>G	ENSP00000506990.1:p.Met534Val
ENST00000360859.12:n.985A>G
ENST00000493682.7:n.2293A>G
ENST00000682313.1:n.1349A>G
ENST00000683602.1:n.3036A>G
ENST00000683758.1:c.1432A>G	ENSP00000508147.1:p.Met478Val
ENST00000683980.1:c.1600A>G	ENSP00000506990.1:p.Met534Val
ENST00000684176.1:n.1641A>G
ENST00000320755.12:c.1570A>G	ENSP00000315252.7:p.Met524Val
ENST00000357250.11:c.2299A>G MANE Select	ENSP00000349790.6:p.Met767Val
ENST00000360859.11:n.985A>G
ENST00000644493.1:c.*1336A>G	ENSP00000495638.1:n.*1336A>G
ENST00000320755.11:c.1570A>G	ENSP00000315252.7:p.Met524Val
ENST00000357250.10:c.2299A>G	ENSP00000349790.6:p.Met767Val
ENST00000486080.5:n.1004A>G
ENST00000489611.5:n.1319A>G
NM_001851.4:c.2299A>G	NP_001842.3:p.Met767Val
NM_078485.3:c.1570A>G	NP_511040.2:p.Met524Val
XM_011535429.1:c.2329A>G	XP_011533731.1:p.Met777Val
XM_011535430.1:c.1600A>G	XP_011533732.1:p.Met534Val
XM_011535431.1:c.991A>G	XP_011533733.1:p.Met331Val
XM_011535429.3:c.2329A>G	XP_011533731.1:p.Met777Val
XM_011535430.3:c.1600A>G	XP_011533732.1:p.Met534Val
XM_017010246.2:c.1780A>G	XP_016865735.1:p.Met594Val
XM_017010247.2:c.1048A>G	XP_016865736.1:p.Met350Val
NM_001377289.1:c.1600A>G	NP_001364218.1:p.Met534Val
NM_001377290.1:c.1423A>G	NP_001364219.1:p.Met475Val
NM_001851.5:c.2299A>G	NP_001842.3:p.Met767Val
NM_078485.4:c.1570A>G	NP_511040.2:p.Met524Val
NR_165185.1:n.1820A>G
NM_001851.6:c.2299A>G MANE Select	NP_001842.3:p.Met767Val