Canonical Allele Identifier: CA341175624

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474072C>G (hg19) ; chr1:g.103008516C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008516C>G , CM000663.2:g.103008516C>G	GRCh38
NC_000001.10:g.103474072C>G , CM000663.1:g.103474072C>G	GRCh37
NC_000001.9:g.103246660C>G	NCBI36
NG_008033.1:g.104981G>C
NG_008033.2:g.104981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1630G>C MANE Select	ENSP00000359114.3:p.Gly544Arg
ENST00000461720.6:c.1783G>C	ENSP00000494909.1:p.Gly595Arg
ENST00000644186.1:c.1630G>C	ENSP00000493821.1:p.Gly544Arg
ENST00000645458.1:c.1630G>C	ENSP00000494179.1:p.Gly544Arg
ENST00000647280.1:c.1630G>C	ENSP00000494583.1:p.Gly544Arg
ENST00000353414.8:c.1513G>C	ENSP00000302551.6:p.Gly505Arg
ENST00000358392.6:c.1666G>C	ENSP00000351163.2:p.Gly556Arg
ENST00000370096.7:c.1630G>C	ENSP00000359114.3:p.Gly544Arg
ENST00000427239.5:c.1666G>C	ENSP00000408640.1:p.Gly556Arg
ENST00000512756.5:c.1282G>C	ENSP00000426533.1:p.Gly428Arg
ENST00000635193.1:c.948G>C
NM_001190709.1:c.1513G>C	NP_001177638.1:p.Gly505Arg
NM_001854.3:c.1630G>C	NP_001845.3:p.Gly544Arg
NM_080629.2:c.1666G>C	NP_542196.2:p.Gly556Arg
NM_080630.3:c.1282G>C	NP_542197.3:p.Gly428Arg
XM_011540719.1:c.1630G>C	XP_011539021.1:p.Gly544Arg
XM_011540720.1:c.-85+160G>C	XP_011539022.1:n.-85+160G>C
XM_011540721.1:c.-799G>C	XP_011539023.1:n.-799G>C
XR_946545.1:n.2028G>C
NR_134980.1:n.1948G>C
XM_017000334.1:c.1783G>C	XP_016855823.1:p.Gly595Arg
XM_017000335.1:c.1777G>C	XP_016855824.1:p.Gly593Arg
XM_017000336.1:c.1783G>C	XP_016855825.1:p.Gly595Arg
XM_017000337.1:c.181G>C	XP_016855826.1:p.Gly61Arg
NM_001854.4:c.1630G>C MANE Select	NP_001845.3:p.Gly544Arg
NM_080630.4:c.1282G>C	NP_542197.3:p.Gly428Arg
NR_134980.2:n.1974G>C
NM_001190709.2:c.1513G>C	NP_001177638.1:p.Gly505Arg
NM_080629.3:c.1666G>C	NP_542196.2:p.Gly556Arg