Canonical Allele Identifier: CA419205374

Gene: COL11A1

Linked Data

• dbSNP Id: rs1659343216
• MyVariant Identifiers: chr1:g.103412414T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946858T>C , CM000663.2:g.102946858T>C	GRCh38
NC_000001.10:g.103412414T>C , CM000663.1:g.103412414T>C	GRCh37
NC_000001.9:g.103185002T>C	NCBI36
NG_008033.1:g.166639A>G
NG_008033.2:g.166639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3267A>G MANE Select	ENSP00000359114.3:p.Lys1089=
ENST00000353414.8:c.3150A>G	ENSP00000302551.6:p.Lys1050=
ENST00000358392.6:c.3303A>G	ENSP00000351163.2:p.Lys1101=
ENST00000370096.7:c.3267A>G	ENSP00000359114.3:p.Lys1089=
ENST00000512756.5:c.2919A>G	ENSP00000426533.1:p.Lys973=
ENST00000635193.1:c.2601A>G
NM_001190709.1:c.3150A>G	NP_001177638.1:p.Lys1050=
NM_001854.3:c.3267A>G	NP_001845.3:p.Lys1089=
NM_080629.2:c.3303A>G	NP_542196.2:p.Lys1101=
NM_080630.3:c.2919A>G	NP_542197.3:p.Lys973=
XM_011540719.1:c.3267A>G	XP_011539021.1:p.Lys1089=
XM_011540720.1:c.1500A>G	XP_011539022.1:p.Lys500=
XM_011540721.1:c.855A>G	XP_011539023.1:p.Lys285=
NR_134980.1:n.3601A>G
XM_017000334.1:c.3420A>G	XP_016855823.1:p.Lys1140=
XM_017000335.1:c.3414A>G	XP_016855824.1:p.Lys1138=
XM_017000336.1:c.3420A>G	XP_016855825.1:p.Lys1140=
XM_017000337.1:c.1818A>G	XP_016855826.1:p.Lys606=
NM_001854.4:c.3267A>G MANE Select	NP_001845.3:p.Lys1089=
NM_080630.4:c.2919A>G	NP_542197.3:p.Lys973=
NR_134980.2:n.3627A>G
NM_001190709.2:c.3150A>G	NP_001177638.1:p.Lys1050=
NM_080629.3:c.3303A>G	NP_542196.2:p.Lys1101=