Canonical Allele Identifier: CA419200350

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444628C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979072C>T , CM000663.2:g.102979072C>T	GRCh38
NC_000001.10:g.103444628C>T , CM000663.1:g.103444628C>T	GRCh37
NC_000001.9:g.103217216C>T	NCBI36
NG_008033.1:g.134425G>A
NG_008033.2:g.134425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2643G>A MANE Select	ENSP00000359114.3:p.Gln881=
ENST00000353414.8:c.2526G>A	ENSP00000302551.6:p.Gln842=
ENST00000358392.6:c.2679G>A	ENSP00000351163.2:p.Gln893=
ENST00000370096.7:c.2643G>A	ENSP00000359114.3:p.Gln881=
ENST00000512756.5:c.2295G>A	ENSP00000426533.1:p.Gln765=
ENST00000635193.1:c.1977G>A
NM_001190709.1:c.2526G>A	NP_001177638.1:p.Gln842=
NM_001854.3:c.2643G>A	NP_001845.3:p.Gln881=
NM_080629.2:c.2679G>A	NP_542196.2:p.Gln893=
NM_080630.3:c.2295G>A	NP_542197.3:p.Gln765=
XM_011540719.1:c.2643G>A	XP_011539021.1:p.Gln881=
XM_011540720.1:c.876G>A	XP_011539022.1:p.Gln292=
XM_011540721.1:c.231G>A	XP_011539023.1:p.Gln77=
XR_946545.1:n.3057G>A
NR_134980.1:n.2977G>A
XM_017000334.1:c.2796G>A	XP_016855823.1:p.Gln932=
XM_017000335.1:c.2790G>A	XP_016855824.1:p.Gln930=
XM_017000336.1:c.2796G>A	XP_016855825.1:p.Gln932=
XM_017000337.1:c.1194G>A	XP_016855826.1:p.Gln398=
NM_001854.4:c.2643G>A MANE Select	NP_001845.3:p.Gln881=
NM_080630.4:c.2295G>A	NP_542197.3:p.Gln765=
NR_134980.2:n.3003G>A
NM_001190709.2:c.2526G>A	NP_001177638.1:p.Gln842=
NM_080629.3:c.2679G>A	NP_542196.2:p.Gln893=