Canonical Allele Identifier: CA419205505

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2998277
• ClinVar RCV Id: RCV003856940
• gnomAD v4: 1-102946909-A-G
• MyVariant Identifiers: chr1:g.103412465A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946909A>G , CM000663.2:g.102946909A>G	GRCh38
NC_000001.10:g.103412465A>G , CM000663.1:g.103412465A>G	GRCh37
NC_000001.9:g.103185053A>G	NCBI36
NG_008033.1:g.166588T>C
NG_008033.2:g.166588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3216T>C MANE Select	ENSP00000359114.3:p.Gly1072=
ENST00000353414.8:c.3099T>C	ENSP00000302551.6:p.Gly1033=
ENST00000358392.6:c.3252T>C	ENSP00000351163.2:p.Gly1084=
ENST00000370096.7:c.3216T>C	ENSP00000359114.3:p.Gly1072=
ENST00000512756.5:c.2868T>C	ENSP00000426533.1:p.Gly956=
ENST00000635193.1:c.2550T>C
NM_001190709.1:c.3099T>C	NP_001177638.1:p.Gly1033=
NM_001854.3:c.3216T>C	NP_001845.3:p.Gly1072=
NM_080629.2:c.3252T>C	NP_542196.2:p.Gly1084=
NM_080630.3:c.2868T>C	NP_542197.3:p.Gly956=
XM_011540719.1:c.3216T>C	XP_011539021.1:p.Gly1072=
XM_011540720.1:c.1449T>C	XP_011539022.1:p.Gly483=
XM_011540721.1:c.804T>C	XP_011539023.1:p.Gly268=
NR_134980.1:n.3550T>C
XM_017000334.1:c.3369T>C	XP_016855823.1:p.Gly1123=
XM_017000335.1:c.3363T>C	XP_016855824.1:p.Gly1121=
XM_017000336.1:c.3369T>C	XP_016855825.1:p.Gly1123=
XM_017000337.1:c.1767T>C	XP_016855826.1:p.Gly589=
NM_001854.4:c.3216T>C MANE Select	NP_001845.3:p.Gly1072=
NM_080630.4:c.2868T>C	NP_542197.3:p.Gly956=
NR_134980.2:n.3576T>C
NM_001190709.2:c.3099T>C	NP_001177638.1:p.Gly1033=
NM_080629.3:c.3252T>C	NP_542196.2:p.Gly1084=