Canonical Allele Identifier: CA419205358

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412408A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946852A>T , CM000663.2:g.102946852A>T	GRCh38
NC_000001.10:g.103412408A>T , CM000663.1:g.103412408A>T	GRCh37
NC_000001.9:g.103184996A>T	NCBI36
NG_008033.1:g.166645T>A
NG_008033.2:g.166645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3273T>A MANE Select	ENSP00000359114.3:p.Ala1091=
ENST00000353414.8:c.3156T>A	ENSP00000302551.6:p.Ala1052=
ENST00000358392.6:c.3309T>A	ENSP00000351163.2:p.Ala1103=
ENST00000370096.7:c.3273T>A	ENSP00000359114.3:p.Ala1091=
ENST00000512756.5:c.2925T>A	ENSP00000426533.1:p.Ala975=
ENST00000635193.1:c.2607T>A
NM_001190709.1:c.3156T>A	NP_001177638.1:p.Ala1052=
NM_001854.3:c.3273T>A	NP_001845.3:p.Ala1091=
NM_080629.2:c.3309T>A	NP_542196.2:p.Ala1103=
NM_080630.3:c.2925T>A	NP_542197.3:p.Ala975=
XM_011540719.1:c.3273T>A	XP_011539021.1:p.Ala1091=
XM_011540720.1:c.1506T>A	XP_011539022.1:p.Ala502=
XM_011540721.1:c.861T>A	XP_011539023.1:p.Ala287=
NR_134980.1:n.3607T>A
XM_017000334.1:c.3426T>A	XP_016855823.1:p.Ala1142=
XM_017000335.1:c.3420T>A	XP_016855824.1:p.Ala1140=
XM_017000336.1:c.3426T>A	XP_016855825.1:p.Ala1142=
XM_017000337.1:c.1824T>A	XP_016855826.1:p.Ala608=
NM_001854.4:c.3273T>A MANE Select	NP_001845.3:p.Ala1091=
NM_080630.4:c.2925T>A	NP_542197.3:p.Ala975=
NR_134980.2:n.3633T>A
NM_001190709.2:c.3156T>A	NP_001177638.1:p.Ala1052=
NM_080629.3:c.3309T>A	NP_542196.2:p.Ala1103=