Canonical Allele Identifier: CA973450

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102887038T>G , CM000663.2:g.102887038T>G	GRCh38
NC_000001.10:g.103352594T>G , CM000663.1:g.103352594T>G	GRCh37
NC_000001.9:g.103125182T>G	NCBI36
NG_008033.1:g.226459A>C
NG_008033.2:g.226459A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4627A>C MANE Select	ENSP00000359114.3:p.Ile1543Leu
ENST00000353414.8:c.4510A>C	ENSP00000302551.6:p.Ile1504Leu
ENST00000358392.6:c.4663A>C	ENSP00000351163.2:p.Ile1555Leu
ENST00000370096.7:c.4627A>C	ENSP00000359114.3:p.Ile1543Leu
ENST00000512756.5:c.4279A>C	ENSP00000426533.1:p.Ile1427Leu
ENST00000635193.1:c.3961A>C
NM_001190709.1:c.4510A>C	NP_001177638.1:p.Ile1504Leu
NM_001854.3:c.4627A>C	NP_001845.3:p.Ile1543Leu
NM_080629.2:c.4663A>C	NP_542196.2:p.Ile1555Leu
NM_080630.3:c.4279A>C	NP_542197.3:p.Ile1427Leu
XM_011540720.1:c.2860A>C	XP_011539022.1:p.Ile954Leu
XM_011540721.1:c.2215A>C	XP_011539023.1:p.Ile739Leu
NR_134980.1:n.4961A>C
XM_017000334.1:c.4780A>C	XP_016855823.1:p.Ile1594Leu
XM_017000335.1:c.4774A>C	XP_016855824.1:p.Ile1592Leu
XM_017000337.1:c.3178A>C	XP_016855826.1:p.Ile1060Leu
NM_001854.4:c.4627A>C MANE Select	NP_001845.3:p.Ile1543Leu
NM_080630.4:c.4279A>C	NP_542197.3:p.Ile1427Leu
NR_134980.2:n.4987A>C
NM_001190709.2:c.4510A>C	NP_001177638.1:p.Ile1504Leu
NM_080629.3:c.4663A>C	NP_542196.2:p.Ile1555Leu