Canonical Allele Identifier: CA341171091

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1349520
• ClinVar RCV Id: RCV002051089
• dbSNP Id: rs144562769
• MyVariant Identifiers: chr1:g.103412452G>C (hg19) ; chr1:g.102946896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946896G>C , CM000663.2:g.102946896G>C	GRCh38
NC_000001.10:g.103412452G>C , CM000663.1:g.103412452G>C	GRCh37
NC_000001.9:g.103185040G>C	NCBI36
NG_008033.1:g.166601C>G
NG_008033.2:g.166601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3229C>G MANE Select	ENSP00000359114.3:p.Pro1077Ala
ENST00000353414.8:c.3112C>G	ENSP00000302551.6:p.Pro1038Ala
ENST00000358392.6:c.3265C>G	ENSP00000351163.2:p.Pro1089Ala
ENST00000370096.7:c.3229C>G	ENSP00000359114.3:p.Pro1077Ala
ENST00000512756.5:c.2881C>G	ENSP00000426533.1:p.Pro961Ala
ENST00000635193.1:c.2563C>G
NM_001190709.1:c.3112C>G	NP_001177638.1:p.Pro1038Ala
NM_001854.3:c.3229C>G	NP_001845.3:p.Pro1077Ala
NM_080629.2:c.3265C>G	NP_542196.2:p.Pro1089Ala
NM_080630.3:c.2881C>G	NP_542197.3:p.Pro961Ala
XM_011540719.1:c.3229C>G	XP_011539021.1:p.Pro1077Ala
XM_011540720.1:c.1462C>G	XP_011539022.1:p.Pro488Ala
XM_011540721.1:c.817C>G	XP_011539023.1:p.Pro273Ala
NR_134980.1:n.3563C>G
XM_017000334.1:c.3382C>G	XP_016855823.1:p.Pro1128Ala
XM_017000335.1:c.3376C>G	XP_016855824.1:p.Pro1126Ala
XM_017000336.1:c.3382C>G	XP_016855825.1:p.Pro1128Ala
XM_017000337.1:c.1780C>G	XP_016855826.1:p.Pro594Ala
NM_001854.4:c.3229C>G MANE Select	NP_001845.3:p.Pro1077Ala
NM_080630.4:c.2881C>G	NP_542197.3:p.Pro961Ala
NR_134980.2:n.3589C>G
NM_001190709.2:c.3112C>G	NP_001177638.1:p.Pro1038Ala
NM_080629.3:c.3265C>G	NP_542196.2:p.Pro1089Ala