Canonical Allele Identifier: CA341170177

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998323G>T , CM000663.2:g.102998323G>T	GRCh38
NC_000001.10:g.103463879G>T , CM000663.1:g.103463879G>T	GRCh37
NC_000001.9:g.103236467G>T	NCBI36
NG_008033.1:g.115174C>A
NG_008033.2:g.115174C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2183C>A MANE Select	ENSP00000359114.3:p.Ala728Asp
ENST00000353414.8:c.2066C>A	ENSP00000302551.6:p.Ala689Asp
ENST00000358392.6:c.2219C>A	ENSP00000351163.2:p.Ala740Asp
ENST00000370096.7:c.2183C>A	ENSP00000359114.3:p.Ala728Asp
ENST00000512756.5:c.1835C>A	ENSP00000426533.1:p.Ala612Asp
ENST00000635193.1:c.1501C>A
NM_001190709.1:c.2066C>A	NP_001177638.1:p.Ala689Asp
NM_001854.3:c.2183C>A	NP_001845.3:p.Ala728Asp
NM_080629.2:c.2219C>A	NP_542196.2:p.Ala740Asp
NM_080630.3:c.1835C>A	NP_542197.3:p.Ala612Asp
XM_011540719.1:c.2183C>A	XP_011539021.1:p.Ala728Asp
XM_011540720.1:c.416C>A	XP_011539022.1:p.Ala139Asp
XM_011540721.1:c.-246C>A	XP_011539023.1:n.-246C>A
XR_946545.1:n.2581C>A
NR_134980.1:n.2501C>A
XM_017000334.1:c.2336C>A	XP_016855823.1:p.Ala779Asp
XM_017000335.1:c.2330C>A	XP_016855824.1:p.Ala777Asp
XM_017000336.1:c.2336C>A	XP_016855825.1:p.Ala779Asp
XM_017000337.1:c.734C>A	XP_016855826.1:p.Ala245Asp
NM_001854.4:c.2183C>A MANE Select	NP_001845.3:p.Ala728Asp
NM_080630.4:c.1835C>A	NP_542197.3:p.Ala612Asp
NR_134980.2:n.2527C>A
NM_001190709.2:c.2066C>A	NP_001177638.1:p.Ala689Asp
NM_080629.3:c.2219C>A	NP_542196.2:p.Ala740Asp