Canonical Allele Identifier: CA974092

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291519
• ClinVar RCV Id: RCV000291280 ; RCV000343870 ; RCV001823132 ; RCV003228921
• dbSNP Id: rs144562769
• ExAC: 1:103412452 G / T
• gnomAD v2: 1-103412452-G-T
• gnomAD v3: 1-102946896-G-T
• gnomAD v4: 1-102946896-G-T
• MyVariant Identifiers: chr1:g.103412452G>T (hg19) ; chr1:g.102946896G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3229C>A MANE Select	ENSP00000359114.3:p.Pro1077Thr
ENST00000353414.8:c.3112C>A	ENSP00000302551.6:p.Pro1038Thr
ENST00000358392.6:c.3265C>A	ENSP00000351163.2:p.Pro1089Thr
ENST00000370096.7:c.3229C>A	ENSP00000359114.3:p.Pro1077Thr
ENST00000512756.5:c.2881C>A	ENSP00000426533.1:p.Pro961Thr
ENST00000635193.1:c.2563C>A
NM_001190709.1:c.3112C>A	NP_001177638.1:p.Pro1038Thr
NM_001854.3:c.3229C>A	NP_001845.3:p.Pro1077Thr
NM_080629.2:c.3265C>A	NP_542196.2:p.Pro1089Thr
NM_080630.3:c.2881C>A	NP_542197.3:p.Pro961Thr
XM_011540719.1:c.3229C>A	XP_011539021.1:p.Pro1077Thr
XM_011540720.1:c.1462C>A	XP_011539022.1:p.Pro488Thr
XM_011540721.1:c.817C>A	XP_011539023.1:p.Pro273Thr
NR_134980.1:n.3563C>A
XM_017000334.1:c.3382C>A	XP_016855823.1:p.Pro1128Thr
XM_017000335.1:c.3376C>A	XP_016855824.1:p.Pro1126Thr
XM_017000336.1:c.3382C>A	XP_016855825.1:p.Pro1128Thr
XM_017000337.1:c.1780C>A	XP_016855826.1:p.Pro594Thr
NM_001854.4:c.3229C>A MANE Select	NP_001845.3:p.Pro1077Thr
NM_080630.4:c.2881C>A	NP_542197.3:p.Pro961Thr
NR_134980.2:n.3589C>A
NM_001190709.2:c.3112C>A	NP_001177638.1:p.Pro1038Thr
NM_080629.3:c.3265C>A	NP_542196.2:p.Pro1089Thr