Canonical Allele Identifier: CA341171235

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412469A>T (hg19) ; chr1:g.102946913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946913A>T , CM000663.2:g.102946913A>T	GRCh38
NC_000001.10:g.103412469A>T , CM000663.1:g.103412469A>T	GRCh37
NC_000001.9:g.103185057A>T	NCBI36
NG_008033.1:g.166584T>A
NG_008033.2:g.166584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3212T>A MANE Select	ENSP00000359114.3:p.Ile1071Asn
ENST00000353414.8:c.3095T>A	ENSP00000302551.6:p.Ile1032Asn
ENST00000358392.6:c.3248T>A	ENSP00000351163.2:p.Ile1083Asn
ENST00000370096.7:c.3212T>A	ENSP00000359114.3:p.Ile1071Asn
ENST00000512756.5:c.2864T>A	ENSP00000426533.1:p.Ile955Asn
ENST00000635193.1:c.2546T>A
NM_001190709.1:c.3095T>A	NP_001177638.1:p.Ile1032Asn
NM_001854.3:c.3212T>A	NP_001845.3:p.Ile1071Asn
NM_080629.2:c.3248T>A	NP_542196.2:p.Ile1083Asn
NM_080630.3:c.2864T>A	NP_542197.3:p.Ile955Asn
XM_011540719.1:c.3212T>A	XP_011539021.1:p.Ile1071Asn
XM_011540720.1:c.1445T>A	XP_011539022.1:p.Ile482Asn
XM_011540721.1:c.800T>A	XP_011539023.1:p.Ile267Asn
NR_134980.1:n.3546T>A
XM_017000334.1:c.3365T>A	XP_016855823.1:p.Ile1122Asn
XM_017000335.1:c.3359T>A	XP_016855824.1:p.Ile1120Asn
XM_017000336.1:c.3365T>A	XP_016855825.1:p.Ile1122Asn
XM_017000337.1:c.1763T>A	XP_016855826.1:p.Ile588Asn
NM_001854.4:c.3212T>A MANE Select	NP_001845.3:p.Ile1071Asn
NM_080630.4:c.2864T>A	NP_542197.3:p.Ile955Asn
NR_134980.2:n.3572T>A
NM_001190709.2:c.3095T>A	NP_001177638.1:p.Ile1032Asn
NM_080629.3:c.3248T>A	NP_542196.2:p.Ile1083Asn