Canonical Allele Identifier: CA341156310

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427460T>A (hg19) ; chr1:g.102961904T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961904T>A , CM000663.2:g.102961904T>A	GRCh38
NC_000001.10:g.103427460T>A , CM000663.1:g.103427460T>A	GRCh37
NC_000001.9:g.103200048T>A	NCBI36
NG_008033.1:g.151593A>T
NG_008033.2:g.151593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3130A>T MANE Select	ENSP00000359114.3:p.Lys1044Ter
ENST00000353414.8:c.3013A>T	ENSP00000302551.6:p.Lys1005Ter
ENST00000358392.6:c.3166A>T	ENSP00000351163.2:p.Lys1056Ter
ENST00000370096.7:c.3130A>T	ENSP00000359114.3:p.Lys1044Ter
ENST00000465209.1:n.138A>T
ENST00000512756.5:c.2782A>T	ENSP00000426533.1:p.Lys928Ter
ENST00000635193.1:c.2464A>T
NM_001190709.1:c.3013A>T	NP_001177638.1:p.Lys1005Ter
NM_001854.3:c.3130A>T	NP_001845.3:p.Lys1044Ter
NM_080629.2:c.3166A>T	NP_542196.2:p.Lys1056Ter
NM_080630.3:c.2782A>T	NP_542197.3:p.Lys928Ter
XM_011540719.1:c.3130A>T	XP_011539021.1:p.Lys1044Ter
XM_011540720.1:c.1363A>T	XP_011539022.1:p.Lys455Ter
XM_011540721.1:c.718A>T	XP_011539023.1:p.Lys240Ter
NR_134980.1:n.3464A>T
XM_017000334.1:c.3283A>T	XP_016855823.1:p.Lys1095Ter
XM_017000335.1:c.3277A>T	XP_016855824.1:p.Lys1093Ter
XM_017000336.1:c.3283A>T	XP_016855825.1:p.Lys1095Ter
XM_017000337.1:c.1681A>T	XP_016855826.1:p.Lys561Ter
NM_001854.4:c.3130A>T MANE Select	NP_001845.3:p.Lys1044Ter
NM_080630.4:c.2782A>T	NP_542197.3:p.Lys928Ter
NR_134980.2:n.3490A>T
NM_001190709.2:c.3013A>T	NP_001177638.1:p.Lys1005Ter
NM_080629.3:c.3166A>T	NP_542196.2:p.Lys1056Ter