Canonical Allele Identifier: CA419200426

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444652A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979096A>C , CM000663.2:g.102979096A>C	GRCh38
NC_000001.10:g.103444652A>C , CM000663.1:g.103444652A>C	GRCh37
NC_000001.9:g.103217240A>C	NCBI36
NG_008033.1:g.134401T>G
NG_008033.2:g.134401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2619T>G MANE Select	ENSP00000359114.3:p.Ala873=
ENST00000353414.8:c.2502T>G	ENSP00000302551.6:p.Ala834=
ENST00000358392.6:c.2655T>G	ENSP00000351163.2:p.Ala885=
ENST00000370096.7:c.2619T>G	ENSP00000359114.3:p.Ala873=
ENST00000512756.5:c.2271T>G	ENSP00000426533.1:p.Ala757=
ENST00000635193.1:c.1953T>G
NM_001190709.1:c.2502T>G	NP_001177638.1:p.Ala834=
NM_001854.3:c.2619T>G	NP_001845.3:p.Ala873=
NM_080629.2:c.2655T>G	NP_542196.2:p.Ala885=
NM_080630.3:c.2271T>G	NP_542197.3:p.Ala757=
XM_011540719.1:c.2619T>G	XP_011539021.1:p.Ala873=
XM_011540720.1:c.852T>G	XP_011539022.1:p.Ala284=
XM_011540721.1:c.207T>G	XP_011539023.1:p.Ala69=
XR_946545.1:n.3033T>G
NR_134980.1:n.2953T>G
XM_017000334.1:c.2772T>G	XP_016855823.1:p.Ala924=
XM_017000335.1:c.2766T>G	XP_016855824.1:p.Ala922=
XM_017000336.1:c.2772T>G	XP_016855825.1:p.Ala924=
XM_017000337.1:c.1170T>G	XP_016855826.1:p.Ala390=
NM_001854.4:c.2619T>G MANE Select	NP_001845.3:p.Ala873=
NM_080630.4:c.2271T>G	NP_542197.3:p.Ala757=
NR_134980.2:n.2979T>G
NM_001190709.2:c.2502T>G	NP_001177638.1:p.Ala834=
NM_080629.3:c.2655T>G	NP_542196.2:p.Ala885=