Canonical Allele Identifier: CA140845792

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70232514G>A , CM000668.2:g.70232514G>A	GRCh38
NC_000006.11:g.70942217G>A , CM000668.1:g.70942217G>A	GRCh37
NC_000006.10:g.70998938G>A	NCBI36
NG_011654.1:g.75570C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2503+69C>T MANE Select	NP_001842.3:n.2503+69C>T
ENST00000357250.11:c.2503+69C>T MANE Select	ENSP00000349790.6:n.2503+69C>T
NM_001377289.1:c.1804+69C>T	NP_001364218.1:n.1804+69C>T
NM_001377290.1:c.1627+69C>T	NP_001364219.1:n.1627+69C>T
NM_001851.4:c.2503+69C>T	NP_001842.3:n.2503+69C>T
NM_001851.5:c.2503+69C>T	NP_001842.3:n.2503+69C>T
NM_078485.3:c.1774+69C>T	NP_511040.2:n.1774+69C>T
NM_078485.4:c.1774+69C>T	NP_511040.2:n.1774+69C>T
NR_165185.1:n.2024+69C>T
ENST00000320755.11:c.1774+69C>T	ENSP00000315252.7:n.1774+69C>T
ENST00000320755.12:c.1774+69C>T	ENSP00000315252.7:n.1774+69C>T
ENST00000357250.10:c.2503+69C>T	ENSP00000349790.6:n.2503+69C>T
ENST00000360859.11:n.1189+69C>T
ENST00000360859.12:n.1189+69C>T
ENST00000486080.5:n.1208+69C>T
ENST00000489611.5:n.1523+69C>T
ENST00000493682.7:n.2497+69C>T
ENST00000644493.1:c.*1540+69C>T	ENSP00000495638.1:n.*1540+69C>T
ENST00000682313.1:n.1553+69C>T
ENST00000683602.1:n.3240+69C>T
ENST00000683758.1:c.1636+69C>T	ENSP00000508147.1:n.1636+69C>T
ENST00000683980.1:c.1804+69C>T	ENSP00000506990.1:n.1804+69C>T
ENST00000683980.2:c.1804+69C>T	ENSP00000506990.1:n.1804+69C>T
ENST00000684176.1:n.1845+69C>T
XM_011535429.1:c.2533+69C>T	XP_011533731.1:n.2533+69C>T
XM_011535429.3:c.2533+69C>T	XP_011533731.1:n.2533+69C>T
XM_011535430.1:c.1804+69C>T	XP_011533732.1:n.1804+69C>T
XM_011535430.3:c.1804+69C>T	XP_011533732.1:n.1804+69C>T
XM_011535431.1:c.1195+69C>T	XP_011533733.1:n.1195+69C>T
XM_017010246.2:c.1984+69C>T	XP_016865735.1:n.1984+69C>T
XM_017010247.2:c.1252+69C>T	XP_016865736.1:n.1252+69C>T