Canonical Allele Identifier: CA341156016

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1396245
• ClinVar RCV Id: RCV001891600 ; RCV003136272
• dbSNP Id: rs886042653
• MyVariant Identifiers: chr1:g.103427421C>T (hg19) ; chr1:g.102961865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961865C>T , CM000663.2:g.102961865C>T	GRCh38
NC_000001.10:g.103427421C>T , CM000663.1:g.103427421C>T	GRCh37
NC_000001.9:g.103200009C>T	NCBI36
NG_008033.1:g.151632G>A
NG_008033.2:g.151632G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3168+1G>A MANE Select	ENSP00000359114.3:n.3168+1G>A
ENST00000353414.8:c.3051+1G>A	ENSP00000302551.6:n.3051+1G>A
ENST00000358392.6:c.3204+1G>A	ENSP00000351163.2:n.3204+1G>A
ENST00000370096.7:c.3168+1G>A	ENSP00000359114.3:n.3168+1G>A
ENST00000465209.1:n.177G>A
ENST00000512756.5:c.2820+1G>A	ENSP00000426533.1:n.2820+1G>A
ENST00000635193.1:c.2502+1G>A
NM_001190709.1:c.3051+1G>A	NP_001177638.1:n.3051+1G>A
NM_001854.3:c.3168+1G>A	NP_001845.3:n.3168+1G>A
NM_080629.2:c.3204+1G>A	NP_542196.2:n.3204+1G>A
NM_080630.3:c.2820+1G>A	NP_542197.3:n.2820+1G>A
XM_011540719.1:c.3168+1G>A	XP_011539021.1:n.3168+1G>A
XM_011540720.1:c.1401+1G>A	XP_011539022.1:n.1401+1G>A
XM_011540721.1:c.756+1G>A	XP_011539023.1:n.756+1G>A
NR_134980.1:n.3502+1G>A
XM_017000334.1:c.3321+1G>A	XP_016855823.1:n.3321+1G>A
XM_017000335.1:c.3315+1G>A	XP_016855824.1:n.3315+1G>A
XM_017000336.1:c.3321+1G>A	XP_016855825.1:n.3321+1G>A
XM_017000337.1:c.1719+1G>A	XP_016855826.1:n.1719+1G>A
NM_001854.4:c.3168+1G>A MANE Select	NP_001845.3:n.3168+1G>A
NM_080630.4:c.2820+1G>A	NP_542197.3:n.2820+1G>A
NR_134980.2:n.3528+1G>A
NM_001190709.2:c.3051+1G>A	NP_001177638.1:n.3051+1G>A
NM_080629.3:c.3204+1G>A	NP_542196.2:n.3204+1G>A