Canonical Allele Identifier: CA419198110

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380299G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914743G>C , CM000663.2:g.102914743G>C	GRCh38
NC_000001.10:g.103380299G>C , CM000663.1:g.103380299G>C	GRCh37
NC_000001.9:g.103152887G>C	NCBI36
NG_008033.1:g.198754C>G
NG_008033.2:g.198754C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3885C>G MANE Select	ENSP00000359114.3:p.Ala1295=
ENST00000353414.8:c.3768C>G	ENSP00000302551.6:p.Ala1256=
ENST00000358392.6:c.3921C>G	ENSP00000351163.2:p.Ala1307=
ENST00000370096.7:c.3885C>G	ENSP00000359114.3:p.Ala1295=
ENST00000512756.5:c.3537C>G	ENSP00000426533.1:p.Ala1179=
ENST00000635193.1:c.3219C>G
NM_001190709.1:c.3768C>G	NP_001177638.1:p.Ala1256=
NM_001854.3:c.3885C>G	NP_001845.3:p.Ala1295=
NM_080629.2:c.3921C>G	NP_542196.2:p.Ala1307=
NM_080630.3:c.3537C>G	NP_542197.3:p.Ala1179=
XM_011540719.1:c.3885C>G	XP_011539021.1:p.Ala1295=
XM_011540720.1:c.2118C>G	XP_011539022.1:p.Ala706=
XM_011540721.1:c.1473C>G	XP_011539023.1:p.Ala491=
NR_134980.1:n.4219C>G
XM_017000334.1:c.4038C>G	XP_016855823.1:p.Ala1346=
XM_017000335.1:c.4032C>G	XP_016855824.1:p.Ala1344=
XM_017000336.1:c.4038C>G	XP_016855825.1:p.Ala1346=
XM_017000337.1:c.2436C>G	XP_016855826.1:p.Ala812=
NM_001854.4:c.3885C>G MANE Select	NP_001845.3:p.Ala1295=
NM_080630.4:c.3537C>G	NP_542197.3:p.Ala1179=
NR_134980.2:n.4245C>G
NM_001190709.2:c.3768C>G	NP_001177638.1:p.Ala1256=
NM_080629.3:c.3921C>G	NP_542196.2:p.Ala1307=