Canonical Allele Identifier: CA341170157

Gene: COL11A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998318C>A , CM000663.2:g.102998318C>A	GRCh38
NC_000001.10:g.103463874C>A , CM000663.1:g.103463874C>A	GRCh37
NC_000001.9:g.103236462C>A	NCBI36
NG_008033.1:g.115179G>T
NG_008033.2:g.115179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2188G>T MANE Select	ENSP00000359114.3:p.Gly730Trp
ENST00000353414.8:c.2071G>T	ENSP00000302551.6:p.Gly691Trp
ENST00000358392.6:c.2224G>T	ENSP00000351163.2:p.Gly742Trp
ENST00000370096.7:c.2188G>T	ENSP00000359114.3:p.Gly730Trp
ENST00000512756.5:c.1840G>T	ENSP00000426533.1:p.Gly614Trp
ENST00000635193.1:c.1506G>T
NM_001190709.1:c.2071G>T	NP_001177638.1:p.Gly691Trp
NM_001854.3:c.2188G>T	NP_001845.3:p.Gly730Trp
NM_080629.2:c.2224G>T	NP_542196.2:p.Gly742Trp
NM_080630.3:c.1840G>T	NP_542197.3:p.Gly614Trp
XM_011540719.1:c.2188G>T	XP_011539021.1:p.Gly730Trp
XM_011540720.1:c.421G>T	XP_011539022.1:p.Gly141Trp
XM_011540721.1:c.-241G>T	XP_011539023.1:n.-241G>T
XR_946545.1:n.2586G>T
NR_134980.1:n.2506G>T
XM_017000334.1:c.2341G>T	XP_016855823.1:p.Gly781Trp
XM_017000335.1:c.2335G>T	XP_016855824.1:p.Gly779Trp
XM_017000336.1:c.2341G>T	XP_016855825.1:p.Gly781Trp
XM_017000337.1:c.739G>T	XP_016855826.1:p.Gly247Trp
NM_001854.4:c.2188G>T MANE Select	NP_001845.3:p.Gly730Trp
NM_080630.4:c.1840G>T	NP_542197.3:p.Gly614Trp
NR_134980.2:n.2532G>T
NM_001190709.2:c.2071G>T	NP_001177638.1:p.Gly691Trp
NM_080629.3:c.2224G>T	NP_542196.2:p.Gly742Trp