Canonical Allele Identifier: CA341162957

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444291A>C (hg19) ; chr1:g.102978735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978735A>C , CM000663.2:g.102978735A>C	GRCh38
NC_000001.10:g.103444291A>C , CM000663.1:g.103444291A>C	GRCh37
NC_000001.9:g.103216879A>C	NCBI36
NG_008033.1:g.134762T>G
NG_008033.2:g.134762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2727T>G MANE Select	ENSP00000359114.3:p.Asp909Glu
ENST00000353414.8:c.2610T>G	ENSP00000302551.6:p.Asp870Glu
ENST00000358392.6:c.2763T>G	ENSP00000351163.2:p.Asp921Glu
ENST00000370096.7:c.2727T>G	ENSP00000359114.3:p.Asp909Glu
ENST00000512756.5:c.2379T>G	ENSP00000426533.1:p.Asp793Glu
ENST00000635193.1:c.2061T>G
NM_001190709.1:c.2610T>G	NP_001177638.1:p.Asp870Glu
NM_001854.3:c.2727T>G	NP_001845.3:p.Asp909Glu
NM_080629.2:c.2763T>G	NP_542196.2:p.Asp921Glu
NM_080630.3:c.2379T>G	NP_542197.3:p.Asp793Glu
XM_011540719.1:c.2727T>G	XP_011539021.1:p.Asp909Glu
XM_011540720.1:c.960T>G	XP_011539022.1:p.Asp320Glu
XM_011540721.1:c.315T>G	XP_011539023.1:p.Asp105Glu
XR_946545.1:n.3141T>G
NR_134980.1:n.3061T>G
XM_017000334.1:c.2880T>G	XP_016855823.1:p.Asp960Glu
XM_017000335.1:c.2874T>G	XP_016855824.1:p.Asp958Glu
XM_017000336.1:c.2880T>G	XP_016855825.1:p.Asp960Glu
XM_017000337.1:c.1278T>G	XP_016855826.1:p.Asp426Glu
NM_001854.4:c.2727T>G MANE Select	NP_001845.3:p.Asp909Glu
NM_080630.4:c.2379T>G	NP_542197.3:p.Asp793Glu
NR_134980.2:n.3087T>G
NM_001190709.2:c.2610T>G	NP_001177638.1:p.Asp870Glu
NM_080629.3:c.2763T>G	NP_542196.2:p.Asp921Glu