Canonical Allele Identifier: CA341171234

Gene: COL11A1

Linked Data

• dbSNP Id: rs1174825061
• gnomAD v2: 1-103412469-A-G
• gnomAD v4: 1-102946913-A-G
• MyVariant Identifiers: chr1:g.103412469A>G (hg19) ; chr1:g.102946913A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3212T>C MANE Select	ENSP00000359114.3:p.Ile1071Thr
ENST00000353414.8:c.3095T>C	ENSP00000302551.6:p.Ile1032Thr
ENST00000358392.6:c.3248T>C	ENSP00000351163.2:p.Ile1083Thr
ENST00000370096.7:c.3212T>C	ENSP00000359114.3:p.Ile1071Thr
ENST00000512756.5:c.2864T>C	ENSP00000426533.1:p.Ile955Thr
ENST00000635193.1:c.2546T>C
NM_001190709.1:c.3095T>C	NP_001177638.1:p.Ile1032Thr
NM_001854.3:c.3212T>C	NP_001845.3:p.Ile1071Thr
NM_080629.2:c.3248T>C	NP_542196.2:p.Ile1083Thr
NM_080630.3:c.2864T>C	NP_542197.3:p.Ile955Thr
XM_011540719.1:c.3212T>C	XP_011539021.1:p.Ile1071Thr
XM_011540720.1:c.1445T>C	XP_011539022.1:p.Ile482Thr
XM_011540721.1:c.800T>C	XP_011539023.1:p.Ile267Thr
NR_134980.1:n.3546T>C
XM_017000334.1:c.3365T>C	XP_016855823.1:p.Ile1122Thr
XM_017000335.1:c.3359T>C	XP_016855824.1:p.Ile1120Thr
XM_017000336.1:c.3365T>C	XP_016855825.1:p.Ile1122Thr
XM_017000337.1:c.1763T>C	XP_016855826.1:p.Ile588Thr
NM_001854.4:c.3212T>C MANE Select	NP_001845.3:p.Ile1071Thr
NM_080630.4:c.2864T>C	NP_542197.3:p.Ile955Thr
NR_134980.2:n.3572T>C
NM_001190709.2:c.3095T>C	NP_001177638.1:p.Ile1032Thr
NM_080629.3:c.3248T>C	NP_542196.2:p.Ile1083Thr