Canonical Allele Identifier: CA341167185

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103455123T>A (hg19) ; chr1:g.102989567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989567T>A , CM000663.2:g.102989567T>A	GRCh38
NC_000001.10:g.103455123T>A , CM000663.1:g.103455123T>A	GRCh37
NC_000001.9:g.103227711T>A	NCBI36
NG_008033.1:g.123930A>T
NG_008033.2:g.123930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2345A>T MANE Select	ENSP00000359114.3:p.Glu782Val
ENST00000353414.8:c.2228A>T	ENSP00000302551.6:p.Glu743Val
ENST00000358392.6:c.2381A>T	ENSP00000351163.2:p.Glu794Val
ENST00000370096.7:c.2345A>T	ENSP00000359114.3:p.Glu782Val
ENST00000512756.5:c.1997A>T	ENSP00000426533.1:p.Glu666Val
ENST00000635193.1:c.1663A>T
NM_001190709.1:c.2228A>T	NP_001177638.1:p.Glu743Val
NM_001854.3:c.2345A>T	NP_001845.3:p.Glu782Val
NM_080629.2:c.2381A>T	NP_542196.2:p.Glu794Val
NM_080630.3:c.1997A>T	NP_542197.3:p.Glu666Val
XM_011540719.1:c.2345A>T	XP_011539021.1:p.Glu782Val
XM_011540720.1:c.578A>T	XP_011539022.1:p.Glu193Val
XM_011540721.1:c.-84A>T	XP_011539023.1:n.-84A>T
XR_946545.1:n.2743A>T
NR_134980.1:n.2663A>T
XM_017000334.1:c.2498A>T	XP_016855823.1:p.Glu833Val
XM_017000335.1:c.2492A>T	XP_016855824.1:p.Glu831Val
XM_017000336.1:c.2498A>T	XP_016855825.1:p.Glu833Val
XM_017000337.1:c.896A>T	XP_016855826.1:p.Glu299Val
NM_001854.4:c.2345A>T MANE Select	NP_001845.3:p.Glu782Val
NM_080630.4:c.1997A>T	NP_542197.3:p.Glu666Val
NR_134980.2:n.2689A>T
NM_001190709.2:c.2228A>T	NP_001177638.1:p.Glu743Val
NM_080629.3:c.2381A>T	NP_542196.2:p.Glu794Val