Canonical Allele Identifier: CA419200293

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2025635
• ClinVar RCV Id: RCV002853301
• MyVariant Identifiers: chr1:g.103444449A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978893A>C , CM000663.2:g.102978893A>C	GRCh38
NC_000001.10:g.103444449A>C , CM000663.1:g.103444449A>C	GRCh37
NC_000001.9:g.103217037A>C	NCBI36
NG_008033.1:g.134604T>G
NG_008033.2:g.134604T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2676T>G MANE Select	ENSP00000359114.3:p.Gly892=
ENST00000353414.8:c.2559T>G	ENSP00000302551.6:p.Gly853=
ENST00000358392.6:c.2712T>G	ENSP00000351163.2:p.Gly904=
ENST00000370096.7:c.2676T>G	ENSP00000359114.3:p.Gly892=
ENST00000512756.5:c.2328T>G	ENSP00000426533.1:p.Gly776=
ENST00000635193.1:c.2010T>G
NM_001190709.1:c.2559T>G	NP_001177638.1:p.Gly853=
NM_001854.3:c.2676T>G	NP_001845.3:p.Gly892=
NM_080629.2:c.2712T>G	NP_542196.2:p.Gly904=
NM_080630.3:c.2328T>G	NP_542197.3:p.Gly776=
XM_011540719.1:c.2676T>G	XP_011539021.1:p.Gly892=
XM_011540720.1:c.909T>G	XP_011539022.1:p.Gly303=
XM_011540721.1:c.264T>G	XP_011539023.1:p.Gly88=
XR_946545.1:n.3090T>G
NR_134980.1:n.3010T>G
XM_017000334.1:c.2829T>G	XP_016855823.1:p.Gly943=
XM_017000335.1:c.2823T>G	XP_016855824.1:p.Gly941=
XM_017000336.1:c.2829T>G	XP_016855825.1:p.Gly943=
XM_017000337.1:c.1227T>G	XP_016855826.1:p.Gly409=
NM_001854.4:c.2676T>G MANE Select	NP_001845.3:p.Gly892=
NM_080630.4:c.2328T>G	NP_542197.3:p.Gly776=
NR_134980.2:n.3036T>G
NM_001190709.2:c.2559T>G	NP_001177638.1:p.Gly853=
NM_080629.3:c.2712T>G	NP_542196.2:p.Gly904=