Canonical Allele Identifier: CA974332

Gene: COL11A1

Linked Data

• dbSNP Id: rs768150316
• ExAC: 1:103444464 A / C
• gnomAD v2: 1-103444464-A-C
• gnomAD v4: 1-102978908-A-C
• MyVariant Identifiers: chr1:g.103444464A>C (hg19) ; chr1:g.102978908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978908A>C , CM000663.2:g.102978908A>C	GRCh38
NC_000001.10:g.103444464A>C , CM000663.1:g.103444464A>C	GRCh37
NC_000001.9:g.103217052A>C	NCBI36
NG_008033.1:g.134589T>G
NG_008033.2:g.134589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2661T>G MANE Select	ENSP00000359114.3:p.Pro887=
ENST00000353414.8:c.2544T>G	ENSP00000302551.6:p.Pro848=
ENST00000358392.6:c.2697T>G	ENSP00000351163.2:p.Pro899=
ENST00000370096.7:c.2661T>G	ENSP00000359114.3:p.Pro887=
ENST00000512756.5:c.2313T>G	ENSP00000426533.1:p.Pro771=
ENST00000635193.1:c.1995T>G
NM_001190709.1:c.2544T>G	NP_001177638.1:p.Pro848=
NM_001854.3:c.2661T>G	NP_001845.3:p.Pro887=
NM_080629.2:c.2697T>G	NP_542196.2:p.Pro899=
NM_080630.3:c.2313T>G	NP_542197.3:p.Pro771=
XM_011540719.1:c.2661T>G	XP_011539021.1:p.Pro887=
XM_011540720.1:c.894T>G	XP_011539022.1:p.Pro298=
XM_011540721.1:c.249T>G	XP_011539023.1:p.Pro83=
XR_946545.1:n.3075T>G
NR_134980.1:n.2995T>G
XM_017000334.1:c.2814T>G	XP_016855823.1:p.Pro938=
XM_017000335.1:c.2808T>G	XP_016855824.1:p.Pro936=
XM_017000336.1:c.2814T>G	XP_016855825.1:p.Pro938=
XM_017000337.1:c.1212T>G	XP_016855826.1:p.Pro404=
NM_001854.4:c.2661T>G MANE Select	NP_001845.3:p.Pro887=
NM_080630.4:c.2313T>G	NP_542197.3:p.Pro771=
NR_134980.2:n.3021T>G
NM_001190709.2:c.2544T>G	NP_001177638.1:p.Pro848=
NM_080629.3:c.2697T>G	NP_542196.2:p.Pro899=