Canonical Allele Identifier: CA3881699

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70216992G>A , CM000668.2:g.70216992G>A	GRCh38
NC_000006.11:g.70926695G>A , CM000668.1:g.70926695G>A	GRCh37
NC_000006.10:g.70983416G>A	NCBI36
NG_011654.1:g.91092C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2671C>T MANE Select	NP_001842.3:p.Pro891Ser
ENST00000357250.11:c.2671C>T MANE Select	ENSP00000349790.6:p.Pro891Ser
NM_001377289.1:c.1972C>T	NP_001364218.1:p.Pro658Ser
NM_001377290.1:c.1795C>T	NP_001364219.1:p.Pro599Ser
NM_001851.4:c.2671C>T	NP_001842.3:p.Pro891Ser
NM_001851.5:c.2671C>T	NP_001842.3:p.Pro891Ser
NM_078485.3:c.1942C>T	NP_511040.2:p.Pro648Ser
NM_078485.4:c.1942C>T	NP_511040.2:p.Pro648Ser
NR_165185.1:n.2192C>T
ENST00000320755.11:c.1942C>T	ENSP00000315252.7:p.Pro648Ser
ENST00000320755.12:c.1942C>T	ENSP00000315252.7:p.Pro648Ser
ENST00000357250.10:c.2671C>T	ENSP00000349790.6:p.Pro891Ser
ENST00000360859.11:n.1357C>T
ENST00000360859.12:n.1357C>T
ENST00000486080.5:n.1376C>T
ENST00000489611.5:n.1691C>T
ENST00000493682.7:n.2665C>T
ENST00000644493.1:c.*1708C>T	ENSP00000495638.1:n.*1708C>T
ENST00000682313.1:n.1721C>T
ENST00000683602.1:n.3408C>T
ENST00000683758.1:c.1804C>T	ENSP00000508147.1:p.Pro602Ser
ENST00000683980.1:c.1972C>T	ENSP00000506990.1:p.Pro658Ser
ENST00000683980.2:c.1972C>T	ENSP00000506990.1:p.Pro658Ser
ENST00000684176.1:n.2013C>T
XM_011535429.1:c.2701C>T	XP_011533731.1:p.Pro901Ser
XM_011535429.3:c.2701C>T	XP_011533731.1:p.Pro901Ser
XM_011535430.1:c.1972C>T	XP_011533732.1:p.Pro658Ser
XM_011535430.3:c.1972C>T	XP_011533732.1:p.Pro658Ser
XM_011535431.1:c.1363C>T	XP_011533733.1:p.Pro455Ser
XM_017010246.2:c.2152C>T	XP_016865735.1:p.Pro718Ser
XM_017010247.2:c.1420C>T	XP_016865736.1:p.Pro474Ser