Canonical Allele Identifier: CA341171012

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946884C>T , CM000663.2:g.102946884C>T	GRCh38
NC_000001.10:g.103412440C>T , CM000663.1:g.103412440C>T	GRCh37
NC_000001.9:g.103185028C>T	NCBI36
NG_008033.1:g.166613G>A
NG_008033.2:g.166613G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3241G>A MANE Select	NP_001845.3:p.Gly1081Ser
ENST00000370096.9:c.3241G>A MANE Select	ENSP00000359114.3:p.Gly1081Ser
NM_001190709.1:c.3124G>A	NP_001177638.1:p.Gly1042Ser
NM_001190709.2:c.3124G>A	NP_001177638.1:p.Gly1042Ser
NM_001854.3:c.3241G>A	NP_001845.3:p.Gly1081Ser
NM_080629.2:c.3277G>A	NP_542196.2:p.Gly1093Ser
NM_080629.3:c.3277G>A	NP_542196.2:p.Gly1093Ser
NM_080630.3:c.2893G>A	NP_542197.3:p.Gly965Ser
NM_080630.4:c.2893G>A	NP_542197.3:p.Gly965Ser
NR_134980.1:n.3575G>A
NR_134980.2:n.3601G>A
ENST00000353414.8:c.3124G>A	ENSP00000302551.6:p.Gly1042Ser
ENST00000358392.6:c.3277G>A	ENSP00000351163.2:p.Gly1093Ser
ENST00000370096.7:c.3241G>A	ENSP00000359114.3:p.Gly1081Ser
ENST00000512756.5:c.2893G>A	ENSP00000426533.1:p.Gly965Ser
ENST00000635193.1:c.2575G>A
XM_011540719.1:c.3241G>A	XP_011539021.1:p.Gly1081Ser
XM_011540720.1:c.1474G>A	XP_011539022.1:p.Gly492Ser
XM_011540721.1:c.829G>A	XP_011539023.1:p.Gly277Ser
XM_017000334.1:c.3394G>A	XP_016855823.1:p.Gly1132Ser
XM_017000335.1:c.3388G>A	XP_016855824.1:p.Gly1130Ser
XM_017000336.1:c.3394G>A	XP_016855825.1:p.Gly1132Ser
XM_017000337.1:c.1792G>A	XP_016855826.1:p.Gly598Ser