Canonical Allele Identifier: CA419205473

Gene: COL11A1

Linked Data

• COSMIC: COSM1953984 ; COSM1953985
• MyVariant Identifiers: chr1:g.103412447T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946891T>A , CM000663.2:g.102946891T>A	GRCh38
NC_000001.10:g.103412447T>A , CM000663.1:g.103412447T>A	GRCh37
NC_000001.9:g.103185035T>A	NCBI36
NG_008033.1:g.166606A>T
NG_008033.2:g.166606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3234A>T MANE Select	ENSP00000359114.3:p.Gly1078=
ENST00000353414.8:c.3117A>T	ENSP00000302551.6:p.Gly1039=
ENST00000358392.6:c.3270A>T	ENSP00000351163.2:p.Gly1090=
ENST00000370096.7:c.3234A>T	ENSP00000359114.3:p.Gly1078=
ENST00000512756.5:c.2886A>T	ENSP00000426533.1:p.Gly962=
ENST00000635193.1:c.2568A>T
NM_001190709.1:c.3117A>T	NP_001177638.1:p.Gly1039=
NM_001854.3:c.3234A>T	NP_001845.3:p.Gly1078=
NM_080629.2:c.3270A>T	NP_542196.2:p.Gly1090=
NM_080630.3:c.2886A>T	NP_542197.3:p.Gly962=
XM_011540719.1:c.3234A>T	XP_011539021.1:p.Gly1078=
XM_011540720.1:c.1467A>T	XP_011539022.1:p.Gly489=
XM_011540721.1:c.822A>T	XP_011539023.1:p.Gly274=
NR_134980.1:n.3568A>T
XM_017000334.1:c.3387A>T	XP_016855823.1:p.Gly1129=
XM_017000335.1:c.3381A>T	XP_016855824.1:p.Gly1127=
XM_017000336.1:c.3387A>T	XP_016855825.1:p.Gly1129=
XM_017000337.1:c.1785A>T	XP_016855826.1:p.Gly595=
NM_001854.4:c.3234A>T MANE Select	NP_001845.3:p.Gly1078=
NM_080630.4:c.2886A>T	NP_542197.3:p.Gly962=
NR_134980.2:n.3594A>T
NM_001190709.2:c.3117A>T	NP_001177638.1:p.Gly1039=
NM_080629.3:c.3270A>T	NP_542196.2:p.Gly1090=