Canonical Allele Identifier: CA341170972

Gene: COL11A1

Linked Data

• COSMIC: COSM4019986 ; COSM4019987
• MyVariant Identifiers: chr1:g.103412431C>T (hg19) ; chr1:g.102946875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946875C>T , CM000663.2:g.102946875C>T	GRCh38
NC_000001.10:g.103412431C>T , CM000663.1:g.103412431C>T	GRCh37
NC_000001.9:g.103185019C>T	NCBI36
NG_008033.1:g.166622G>A
NG_008033.2:g.166622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3250G>A MANE Select	ENSP00000359114.3:p.Gly1084Ser
ENST00000353414.8:c.3133G>A	ENSP00000302551.6:p.Gly1045Ser
ENST00000358392.6:c.3286G>A	ENSP00000351163.2:p.Gly1096Ser
ENST00000370096.7:c.3250G>A	ENSP00000359114.3:p.Gly1084Ser
ENST00000512756.5:c.2902G>A	ENSP00000426533.1:p.Gly968Ser
ENST00000635193.1:c.2584G>A
NM_001190709.1:c.3133G>A	NP_001177638.1:p.Gly1045Ser
NM_001854.3:c.3250G>A	NP_001845.3:p.Gly1084Ser
NM_080629.2:c.3286G>A	NP_542196.2:p.Gly1096Ser
NM_080630.3:c.2902G>A	NP_542197.3:p.Gly968Ser
XM_011540719.1:c.3250G>A	XP_011539021.1:p.Gly1084Ser
XM_011540720.1:c.1483G>A	XP_011539022.1:p.Gly495Ser
XM_011540721.1:c.838G>A	XP_011539023.1:p.Gly280Ser
NR_134980.1:n.3584G>A
XM_017000334.1:c.3403G>A	XP_016855823.1:p.Gly1135Ser
XM_017000335.1:c.3397G>A	XP_016855824.1:p.Gly1133Ser
XM_017000336.1:c.3403G>A	XP_016855825.1:p.Gly1135Ser
XM_017000337.1:c.1801G>A	XP_016855826.1:p.Gly601Ser
NM_001854.4:c.3250G>A MANE Select	NP_001845.3:p.Gly1084Ser
NM_080630.4:c.2902G>A	NP_542197.3:p.Gly968Ser
NR_134980.2:n.3610G>A
NM_001190709.2:c.3133G>A	NP_001177638.1:p.Gly1045Ser
NM_080629.3:c.3286G>A	NP_542196.2:p.Gly1096Ser