Canonical Allele Identifier: CA341170163

Gene: COL11A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998319A>C , CM000663.2:g.102998319A>C	GRCh38
NC_000001.10:g.103463875A>C , CM000663.1:g.103463875A>C	GRCh37
NC_000001.9:g.103236463A>C	NCBI36
NG_008033.1:g.115178T>G
NG_008033.2:g.115178T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2187T>G MANE Select	ENSP00000359114.3:p.Asp729Glu
ENST00000353414.8:c.2070T>G	ENSP00000302551.6:p.Asp690Glu
ENST00000358392.6:c.2223T>G	ENSP00000351163.2:p.Asp741Glu
ENST00000370096.7:c.2187T>G	ENSP00000359114.3:p.Asp729Glu
ENST00000512756.5:c.1839T>G	ENSP00000426533.1:p.Asp613Glu
ENST00000635193.1:c.1505T>G
NM_001190709.1:c.2070T>G	NP_001177638.1:p.Asp690Glu
NM_001854.3:c.2187T>G	NP_001845.3:p.Asp729Glu
NM_080629.2:c.2223T>G	NP_542196.2:p.Asp741Glu
NM_080630.3:c.1839T>G	NP_542197.3:p.Asp613Glu
XM_011540719.1:c.2187T>G	XP_011539021.1:p.Asp729Glu
XM_011540720.1:c.420T>G	XP_011539022.1:p.Asp140Glu
XM_011540721.1:c.-242T>G	XP_011539023.1:n.-242T>G
XR_946545.1:n.2585T>G
NR_134980.1:n.2505T>G
XM_017000334.1:c.2340T>G	XP_016855823.1:p.Asp780Glu
XM_017000335.1:c.2334T>G	XP_016855824.1:p.Asp778Glu
XM_017000336.1:c.2340T>G	XP_016855825.1:p.Asp780Glu
XM_017000337.1:c.738T>G	XP_016855826.1:p.Asp246Glu
NM_001854.4:c.2187T>G MANE Select	NP_001845.3:p.Asp729Glu
NM_080630.4:c.1839T>G	NP_542197.3:p.Asp613Glu
NR_134980.2:n.2531T>G
NM_001190709.2:c.2070T>G	NP_001177638.1:p.Asp690Glu
NM_080629.3:c.2223T>G	NP_542196.2:p.Asp741Glu