Canonical Allele Identifier: CA341175499

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474041T>G (hg19) ; chr1:g.103008485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008485T>G , CM000663.2:g.103008485T>G	GRCh38
NC_000001.10:g.103474041T>G , CM000663.1:g.103474041T>G	GRCh37
NC_000001.9:g.103246629T>G	NCBI36
NG_008033.1:g.105012A>C
NG_008033.2:g.105012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1661A>C MANE Select	ENSP00000359114.3:p.Glu554Ala
ENST00000461720.6:c.1814A>C	ENSP00000494909.1:p.Glu605Ala
ENST00000644186.1:c.1661A>C	ENSP00000493821.1:p.Glu554Ala
ENST00000645458.1:c.1661A>C	ENSP00000494179.1:p.Glu554Ala
ENST00000647280.1:c.1661A>C	ENSP00000494583.1:p.Glu554Ala
ENST00000353414.8:c.1544A>C	ENSP00000302551.6:p.Glu515Ala
ENST00000358392.6:c.1697A>C	ENSP00000351163.2:p.Glu566Ala
ENST00000370096.7:c.1661A>C	ENSP00000359114.3:p.Glu554Ala
ENST00000427239.5:c.1697A>C	ENSP00000408640.1:p.Glu566Ala
ENST00000461720.5:n.9A>C
ENST00000512756.5:c.1313A>C	ENSP00000426533.1:p.Glu438Ala
ENST00000635193.1:c.979A>C
NM_001190709.1:c.1544A>C	NP_001177638.1:p.Glu515Ala
NM_001854.3:c.1661A>C	NP_001845.3:p.Glu554Ala
NM_080629.2:c.1697A>C	NP_542196.2:p.Glu566Ala
NM_080630.3:c.1313A>C	NP_542197.3:p.Glu438Ala
XM_011540719.1:c.1661A>C	XP_011539021.1:p.Glu554Ala
XM_011540720.1:c.-85+191A>C	XP_011539022.1:n.-85+191A>C
XM_011540721.1:c.-768A>C	XP_011539023.1:n.-768A>C
XR_946545.1:n.2059A>C
NR_134980.1:n.1979A>C
XM_017000334.1:c.1814A>C	XP_016855823.1:p.Glu605Ala
XM_017000335.1:c.1808A>C	XP_016855824.1:p.Glu603Ala
XM_017000336.1:c.1814A>C	XP_016855825.1:p.Glu605Ala
XM_017000337.1:c.212A>C	XP_016855826.1:p.Glu71Ala
NM_001854.4:c.1661A>C MANE Select	NP_001845.3:p.Glu554Ala
NM_080630.4:c.1313A>C	NP_542197.3:p.Glu438Ala
NR_134980.2:n.2005A>C
NM_001190709.2:c.1544A>C	NP_001177638.1:p.Glu515Ala
NM_080629.3:c.1697A>C	NP_542196.2:p.Glu566Ala