Canonical Allele Identifier: CA341171090

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2189990
• ClinVar RCV Id: RCV002611979
• gnomAD v4: 1-102946896-G-A
• MyVariant Identifiers: chr1:g.103412452G>A (hg19) ; chr1:g.102946896G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3229C>T MANE Select	ENSP00000359114.3:p.Pro1077Ser
ENST00000353414.8:c.3112C>T	ENSP00000302551.6:p.Pro1038Ser
ENST00000358392.6:c.3265C>T	ENSP00000351163.2:p.Pro1089Ser
ENST00000370096.7:c.3229C>T	ENSP00000359114.3:p.Pro1077Ser
ENST00000512756.5:c.2881C>T	ENSP00000426533.1:p.Pro961Ser
ENST00000635193.1:c.2563C>T
NM_001190709.1:c.3112C>T	NP_001177638.1:p.Pro1038Ser
NM_001854.3:c.3229C>T	NP_001845.3:p.Pro1077Ser
NM_080629.2:c.3265C>T	NP_542196.2:p.Pro1089Ser
NM_080630.3:c.2881C>T	NP_542197.3:p.Pro961Ser
XM_011540719.1:c.3229C>T	XP_011539021.1:p.Pro1077Ser
XM_011540720.1:c.1462C>T	XP_011539022.1:p.Pro488Ser
XM_011540721.1:c.817C>T	XP_011539023.1:p.Pro273Ser
NR_134980.1:n.3563C>T
XM_017000334.1:c.3382C>T	XP_016855823.1:p.Pro1128Ser
XM_017000335.1:c.3376C>T	XP_016855824.1:p.Pro1126Ser
XM_017000336.1:c.3382C>T	XP_016855825.1:p.Pro1128Ser
XM_017000337.1:c.1780C>T	XP_016855826.1:p.Pro594Ser
NM_001854.4:c.3229C>T MANE Select	NP_001845.3:p.Pro1077Ser
NM_080630.4:c.2881C>T	NP_542197.3:p.Pro961Ser
NR_134980.2:n.3589C>T
NM_001190709.2:c.3112C>T	NP_001177638.1:p.Pro1038Ser
NM_080629.3:c.3265C>T	NP_542196.2:p.Pro1089Ser