Canonical Allele Identifier: CA341175536

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474050G>C (hg19) ; chr1:g.103008494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008494G>C , CM000663.2:g.103008494G>C	GRCh38
NC_000001.10:g.103474050G>C , CM000663.1:g.103474050G>C	GRCh37
NC_000001.9:g.103246638G>C	NCBI36
NG_008033.1:g.105003C>G
NG_008033.2:g.105003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1652C>G MANE Select	ENSP00000359114.3:p.Ala551Gly
ENST00000461720.6:c.1805C>G	ENSP00000494909.1:p.Ala602Gly
ENST00000644186.1:c.1652C>G	ENSP00000493821.1:p.Ala551Gly
ENST00000645458.1:c.1652C>G	ENSP00000494179.1:p.Ala551Gly
ENST00000647280.1:c.1652C>G	ENSP00000494583.1:p.Ala551Gly
ENST00000353414.8:c.1535C>G	ENSP00000302551.6:p.Ala512Gly
ENST00000358392.6:c.1688C>G	ENSP00000351163.2:p.Ala563Gly
ENST00000370096.7:c.1652C>G	ENSP00000359114.3:p.Ala551Gly
ENST00000427239.5:c.1688C>G	ENSP00000408640.1:p.Ala563Gly
ENST00000512756.5:c.1304C>G	ENSP00000426533.1:p.Ala435Gly
ENST00000635193.1:c.970C>G
NM_001190709.1:c.1535C>G	NP_001177638.1:p.Ala512Gly
NM_001854.3:c.1652C>G	NP_001845.3:p.Ala551Gly
NM_080629.2:c.1688C>G	NP_542196.2:p.Ala563Gly
NM_080630.3:c.1304C>G	NP_542197.3:p.Ala435Gly
XM_011540719.1:c.1652C>G	XP_011539021.1:p.Ala551Gly
XM_011540720.1:c.-85+182C>G	XP_011539022.1:n.-85+182C>G
XM_011540721.1:c.-777C>G	XP_011539023.1:n.-777C>G
XR_946545.1:n.2050C>G
NR_134980.1:n.1970C>G
XM_017000334.1:c.1805C>G	XP_016855823.1:p.Ala602Gly
XM_017000335.1:c.1799C>G	XP_016855824.1:p.Ala600Gly
XM_017000336.1:c.1805C>G	XP_016855825.1:p.Ala602Gly
XM_017000337.1:c.203C>G	XP_016855826.1:p.Ala68Gly
NM_001854.4:c.1652C>G MANE Select	NP_001845.3:p.Ala551Gly
NM_080630.4:c.1304C>G	NP_542197.3:p.Ala435Gly
NR_134980.2:n.1996C>G
NM_001190709.2:c.1535C>G	NP_001177638.1:p.Ala512Gly
NM_080629.3:c.1688C>G	NP_542196.2:p.Ala563Gly