Canonical Allele Identifier: CA419207801

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474028T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008472T>G , CM000663.2:g.103008472T>G	GRCh38
NC_000001.10:g.103474028T>G , CM000663.1:g.103474028T>G	GRCh37
NC_000001.9:g.103246616T>G	NCBI36
NG_008033.1:g.105025A>C
NG_008033.2:g.105025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1674A>C MANE Select	ENSP00000359114.3:p.Pro558=
ENST00000461720.6:c.1827A>C	ENSP00000494909.1:p.Pro609=
ENST00000644186.1:c.1674A>C	ENSP00000493821.1:p.Pro558=
ENST00000645458.1:c.1674A>C	ENSP00000494179.1:p.Pro558=
ENST00000647280.1:c.1674A>C	ENSP00000494583.1:p.Pro558=
ENST00000353414.8:c.1557A>C	ENSP00000302551.6:p.Pro519=
ENST00000358392.6:c.1710A>C	ENSP00000351163.2:p.Pro570=
ENST00000370096.7:c.1674A>C	ENSP00000359114.3:p.Pro558=
ENST00000461720.5:n.22A>C
ENST00000512756.5:c.1326A>C	ENSP00000426533.1:p.Pro442=
ENST00000635193.1:c.992A>C
NM_001190709.1:c.1557A>C	NP_001177638.1:p.Pro519=
NM_001854.3:c.1674A>C	NP_001845.3:p.Pro558=
NM_080629.2:c.1710A>C	NP_542196.2:p.Pro570=
NM_080630.3:c.1326A>C	NP_542197.3:p.Pro442=
XM_011540719.1:c.1674A>C	XP_011539021.1:p.Pro558=
XM_011540720.1:c.-85+204A>C	XP_011539022.1:n.-85+204A>C
XM_011540721.1:c.-755A>C	XP_011539023.1:n.-755A>C
XR_946545.1:n.2072A>C
NR_134980.1:n.1992A>C
XM_017000334.1:c.1827A>C	XP_016855823.1:p.Pro609=
XM_017000335.1:c.1821A>C	XP_016855824.1:p.Pro607=
XM_017000336.1:c.1827A>C	XP_016855825.1:p.Pro609=
XM_017000337.1:c.225A>C	XP_016855826.1:p.Pro75=
NM_001854.4:c.1674A>C MANE Select	NP_001845.3:p.Pro558=
NM_080630.4:c.1326A>C	NP_542197.3:p.Pro442=
NR_134980.2:n.2018A>C
NM_001190709.2:c.1557A>C	NP_001177638.1:p.Pro519=
NM_080629.3:c.1710A>C	NP_542196.2:p.Pro570=