Canonical Allele Identifier: CA341162853

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444267T>A (hg19) ; chr1:g.102978711T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978711T>A , CM000663.2:g.102978711T>A	GRCh38
NC_000001.10:g.103444267T>A , CM000663.1:g.103444267T>A	GRCh37
NC_000001.9:g.103216855T>A	NCBI36
NG_008033.1:g.134786A>T
NG_008033.2:g.134786A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2751A>T MANE Select	ENSP00000359114.3:p.Glu917Asp
ENST00000353414.8:c.2634A>T	ENSP00000302551.6:p.Glu878Asp
ENST00000358392.6:c.2787A>T	ENSP00000351163.2:p.Glu929Asp
ENST00000370096.7:c.2751A>T	ENSP00000359114.3:p.Glu917Asp
ENST00000512756.5:c.2403A>T	ENSP00000426533.1:p.Glu801Asp
ENST00000635193.1:c.2085A>T
NM_001190709.1:c.2634A>T	NP_001177638.1:p.Glu878Asp
NM_001854.3:c.2751A>T	NP_001845.3:p.Glu917Asp
NM_080629.2:c.2787A>T	NP_542196.2:p.Glu929Asp
NM_080630.3:c.2403A>T	NP_542197.3:p.Glu801Asp
XM_011540719.1:c.2751A>T	XP_011539021.1:p.Glu917Asp
XM_011540720.1:c.984A>T	XP_011539022.1:p.Glu328Asp
XM_011540721.1:c.339A>T	XP_011539023.1:p.Glu113Asp
XR_946545.1:n.3165A>T
NR_134980.1:n.3085A>T
XM_017000334.1:c.2904A>T	XP_016855823.1:p.Glu968Asp
XM_017000335.1:c.2898A>T	XP_016855824.1:p.Glu966Asp
XM_017000336.1:c.2904A>T	XP_016855825.1:p.Glu968Asp
XM_017000337.1:c.1302A>T	XP_016855826.1:p.Glu434Asp
NM_001854.4:c.2751A>T MANE Select	NP_001845.3:p.Glu917Asp
NM_080630.4:c.2403A>T	NP_542197.3:p.Glu801Asp
NR_134980.2:n.3111A>T
NM_001190709.2:c.2634A>T	NP_001177638.1:p.Glu878Asp
NM_080629.3:c.2787A>T	NP_542196.2:p.Glu929Asp