Canonical Allele Identifier: CA341163346

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2752553
• ClinVar RCV Id: RCV003566476
• MyVariant Identifiers: chr1:g.103444451C>G (hg19) ; chr1:g.102978895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978895C>G , CM000663.2:g.102978895C>G	GRCh38
NC_000001.10:g.103444451C>G , CM000663.1:g.103444451C>G	GRCh37
NC_000001.9:g.103217039C>G	NCBI36
NG_008033.1:g.134602G>C
NG_008033.2:g.134602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2674G>C MANE Select	ENSP00000359114.3:p.Gly892Arg
ENST00000353414.8:c.2557G>C	ENSP00000302551.6:p.Gly853Arg
ENST00000358392.6:c.2710G>C	ENSP00000351163.2:p.Gly904Arg
ENST00000370096.7:c.2674G>C	ENSP00000359114.3:p.Gly892Arg
ENST00000512756.5:c.2326G>C	ENSP00000426533.1:p.Gly776Arg
ENST00000635193.1:c.2008G>C
NM_001190709.1:c.2557G>C	NP_001177638.1:p.Gly853Arg
NM_001854.3:c.2674G>C	NP_001845.3:p.Gly892Arg
NM_080629.2:c.2710G>C	NP_542196.2:p.Gly904Arg
NM_080630.3:c.2326G>C	NP_542197.3:p.Gly776Arg
XM_011540719.1:c.2674G>C	XP_011539021.1:p.Gly892Arg
XM_011540720.1:c.907G>C	XP_011539022.1:p.Gly303Arg
XM_011540721.1:c.262G>C	XP_011539023.1:p.Gly88Arg
XR_946545.1:n.3088G>C
NR_134980.1:n.3008G>C
XM_017000334.1:c.2827G>C	XP_016855823.1:p.Gly943Arg
XM_017000335.1:c.2821G>C	XP_016855824.1:p.Gly941Arg
XM_017000336.1:c.2827G>C	XP_016855825.1:p.Gly943Arg
XM_017000337.1:c.1225G>C	XP_016855826.1:p.Gly409Arg
NM_001854.4:c.2674G>C MANE Select	NP_001845.3:p.Gly892Arg
NM_080630.4:c.2326G>C	NP_542197.3:p.Gly776Arg
NR_134980.2:n.3034G>C
NM_001190709.2:c.2557G>C	NP_001177638.1:p.Gly853Arg
NM_080629.3:c.2710G>C	NP_542196.2:p.Gly904Arg