Canonical Allele Identifier: CA3881713

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70217078T>G , CM000668.2:g.70217078T>G	GRCh38
NC_000006.11:g.70926781T>G , CM000668.1:g.70926781T>G	GRCh37
NC_000006.10:g.70983502T>G	NCBI36
NG_011654.1:g.91006A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2585A>C MANE Select	NP_001842.3:p.Asp862Ala
ENST00000357250.11:c.2585A>C MANE Select	ENSP00000349790.6:p.Asp862Ala
NM_001377289.1:c.1886A>C	NP_001364218.1:p.Asp629Ala
NM_001377290.1:c.1709A>C	NP_001364219.1:p.Asp570Ala
NM_001851.4:c.2585A>C	NP_001842.3:p.Asp862Ala
NM_001851.5:c.2585A>C	NP_001842.3:p.Asp862Ala
NM_078485.3:c.1856A>C	NP_511040.2:p.Asp619Ala
NM_078485.4:c.1856A>C	NP_511040.2:p.Asp619Ala
NR_165185.1:n.2106A>C
ENST00000320755.11:c.1856A>C	ENSP00000315252.7:p.Asp619Ala
ENST00000320755.12:c.1856A>C	ENSP00000315252.7:p.Asp619Ala
ENST00000357250.10:c.2585A>C	ENSP00000349790.6:p.Asp862Ala
ENST00000360859.11:n.1271A>C
ENST00000360859.12:n.1271A>C
ENST00000486080.5:n.1290A>C
ENST00000489611.5:n.1605A>C
ENST00000493682.7:n.2579A>C
ENST00000644493.1:c.*1622A>C	ENSP00000495638.1:n.*1622A>C
ENST00000682313.1:n.1635A>C
ENST00000683602.1:n.3322A>C
ENST00000683758.1:c.1718A>C	ENSP00000508147.1:p.Asp573Ala
ENST00000683980.1:c.1886A>C	ENSP00000506990.1:p.Asp629Ala
ENST00000683980.2:c.1886A>C	ENSP00000506990.1:p.Asp629Ala
ENST00000684176.1:n.1927A>C
XM_011535429.1:c.2615A>C	XP_011533731.1:p.Asp872Ala
XM_011535429.3:c.2615A>C	XP_011533731.1:p.Asp872Ala
XM_011535430.1:c.1886A>C	XP_011533732.1:p.Asp629Ala
XM_011535430.3:c.1886A>C	XP_011533732.1:p.Asp629Ala
XM_011535431.1:c.1277A>C	XP_011533733.1:p.Asp426Ala
XM_017010246.2:c.2066A>C	XP_016865735.1:p.Asp689Ala
XM_017010247.2:c.1334A>C	XP_016865736.1:p.Asp445Ala