Canonical Allele Identifier: CA140848260

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1600A>C	ENSP00000506990.1:p.Met534Leu
ENST00000360859.12:n.985A>C
ENST00000493682.7:n.2293A>C
ENST00000682313.1:n.1349A>C
ENST00000683602.1:n.3036A>C
ENST00000683758.1:c.1432A>C	ENSP00000508147.1:p.Met478Leu
ENST00000683980.1:c.1600A>C	ENSP00000506990.1:p.Met534Leu
ENST00000684176.1:n.1641A>C
ENST00000320755.12:c.1570A>C	ENSP00000315252.7:p.Met524Leu
ENST00000357250.11:c.2299A>C MANE Select	ENSP00000349790.6:p.Met767Leu
ENST00000360859.11:n.985A>C
ENST00000644493.1:c.*1336A>C	ENSP00000495638.1:n.*1336A>C
ENST00000320755.11:c.1570A>C	ENSP00000315252.7:p.Met524Leu
ENST00000357250.10:c.2299A>C	ENSP00000349790.6:p.Met767Leu
ENST00000486080.5:n.1004A>C
ENST00000489611.5:n.1319A>C
NM_001851.4:c.2299A>C	NP_001842.3:p.Met767Leu
NM_078485.3:c.1570A>C	NP_511040.2:p.Met524Leu
XM_011535429.1:c.2329A>C	XP_011533731.1:p.Met777Leu
XM_011535430.1:c.1600A>C	XP_011533732.1:p.Met534Leu
XM_011535431.1:c.991A>C	XP_011533733.1:p.Met331Leu
XM_011535429.3:c.2329A>C	XP_011533731.1:p.Met777Leu
XM_011535430.3:c.1600A>C	XP_011533732.1:p.Met534Leu
XM_017010246.2:c.1780A>C	XP_016865735.1:p.Met594Leu
XM_017010247.2:c.1048A>C	XP_016865736.1:p.Met350Leu
NM_001377289.1:c.1600A>C	NP_001364218.1:p.Met534Leu
NM_001377290.1:c.1423A>C	NP_001364219.1:p.Met475Leu
NM_001851.5:c.2299A>C	NP_001842.3:p.Met767Leu
NM_078485.4:c.1570A>C	NP_511040.2:p.Met524Leu
NR_165185.1:n.1820A>C
NM_001851.6:c.2299A>C MANE Select	NP_001842.3:p.Met767Leu