Canonical Allele Identifier: CA341170169

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998320T>G , CM000663.2:g.102998320T>G	GRCh38
NC_000001.10:g.103463876T>G , CM000663.1:g.103463876T>G	GRCh37
NC_000001.9:g.103236464T>G	NCBI36
NG_008033.1:g.115177A>C
NG_008033.2:g.115177A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2186A>C MANE Select	NP_001845.3:p.Asp729Ala
ENST00000370096.9:c.2186A>C MANE Select	ENSP00000359114.3:p.Asp729Ala
NM_001190709.1:c.2069A>C	NP_001177638.1:p.Asp690Ala
NM_001190709.2:c.2069A>C	NP_001177638.1:p.Asp690Ala
NM_001854.3:c.2186A>C	NP_001845.3:p.Asp729Ala
NM_080629.2:c.2222A>C	NP_542196.2:p.Asp741Ala
NM_080629.3:c.2222A>C	NP_542196.2:p.Asp741Ala
NM_080630.3:c.1838A>C	NP_542197.3:p.Asp613Ala
NM_080630.4:c.1838A>C	NP_542197.3:p.Asp613Ala
NR_134980.1:n.2504A>C
NR_134980.2:n.2530A>C
ENST00000353414.8:c.2069A>C	ENSP00000302551.6:p.Asp690Ala
ENST00000358392.6:c.2222A>C	ENSP00000351163.2:p.Asp741Ala
ENST00000370096.7:c.2186A>C	ENSP00000359114.3:p.Asp729Ala
ENST00000512756.5:c.1838A>C	ENSP00000426533.1:p.Asp613Ala
ENST00000635193.1:c.1504A>C
XM_011540719.1:c.2186A>C	XP_011539021.1:p.Asp729Ala
XM_011540720.1:c.419A>C	XP_011539022.1:p.Asp140Ala
XM_011540721.1:c.-243A>C	XP_011539023.1:n.-243A>C
XM_017000334.1:c.2339A>C	XP_016855823.1:p.Asp780Ala
XM_017000335.1:c.2333A>C	XP_016855824.1:p.Asp778Ala
XM_017000336.1:c.2339A>C	XP_016855825.1:p.Asp780Ala
XM_017000337.1:c.737A>C	XP_016855826.1:p.Asp246Ala
XR_946545.1:n.2584A>C