Canonical Allele Identifier: CA27693634

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102962222G>T , CM000663.2:g.102962222G>T	GRCh38
NC_000001.10:g.103427778G>T , CM000663.1:g.103427778G>T	GRCh37
NC_000001.9:g.103200366G>T	NCBI36
NG_008033.1:g.151275C>A
NG_008033.2:g.151275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3068C>A MANE Select	ENSP00000359114.3:p.Ala1023Glu
ENST00000353414.8:c.2951C>A	ENSP00000302551.6:p.Ala984Glu
ENST00000358392.6:c.3104C>A	ENSP00000351163.2:p.Ala1035Glu
ENST00000370096.7:c.3068C>A	ENSP00000359114.3:p.Ala1023Glu
ENST00000465209.1:n.76C>A
ENST00000512756.5:c.2720C>A	ENSP00000426533.1:p.Ala907Glu
ENST00000635193.1:c.2402C>A
NM_001190709.1:c.2951C>A	NP_001177638.1:p.Ala984Glu
NM_001854.3:c.3068C>A	NP_001845.3:p.Ala1023Glu
NM_080629.2:c.3104C>A	NP_542196.2:p.Ala1035Glu
NM_080630.3:c.2720C>A	NP_542197.3:p.Ala907Glu
XM_011540719.1:c.3068C>A	XP_011539021.1:p.Ala1023Glu
XM_011540720.1:c.1301C>A	XP_011539022.1:p.Ala434Glu
XM_011540721.1:c.656C>A	XP_011539023.1:p.Ala219Glu
NR_134980.1:n.3402C>A
XM_017000334.1:c.3221C>A	XP_016855823.1:p.Ala1074Glu
XM_017000335.1:c.3215C>A	XP_016855824.1:p.Ala1072Glu
XM_017000336.1:c.3221C>A	XP_016855825.1:p.Ala1074Glu
XM_017000337.1:c.1619C>A	XP_016855826.1:p.Ala540Glu
NM_001854.4:c.3068C>A MANE Select	NP_001845.3:p.Ala1023Glu
NM_080630.4:c.2720C>A	NP_542197.3:p.Ala907Glu
NR_134980.2:n.3428C>A
NM_001190709.2:c.2951C>A	NP_001177638.1:p.Ala984Glu
NM_080629.3:c.3104C>A	NP_542196.2:p.Ala1035Glu