Canonical Allele Identifier: CA341156029

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427423A>T (hg19) ; chr1:g.102961867A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961867A>T , CM000663.2:g.102961867A>T	GRCh38
NC_000001.10:g.103427423A>T , CM000663.1:g.103427423A>T	GRCh37
NC_000001.9:g.103200011A>T	NCBI36
NG_008033.1:g.151630T>A
NG_008033.2:g.151630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3167T>A MANE Select	ENSP00000359114.3:p.Val1056Asp
ENST00000353414.8:c.3050T>A	ENSP00000302551.6:p.Val1017Asp
ENST00000358392.6:c.3203T>A	ENSP00000351163.2:p.Val1068Asp
ENST00000370096.7:c.3167T>A	ENSP00000359114.3:p.Val1056Asp
ENST00000465209.1:n.175T>A
ENST00000512756.5:c.2819T>A	ENSP00000426533.1:p.Val940Asp
ENST00000635193.1:c.2501T>A
NM_001190709.1:c.3050T>A	NP_001177638.1:p.Val1017Asp
NM_001854.3:c.3167T>A	NP_001845.3:p.Val1056Asp
NM_080629.2:c.3203T>A	NP_542196.2:p.Val1068Asp
NM_080630.3:c.2819T>A	NP_542197.3:p.Val940Asp
XM_011540719.1:c.3167T>A	XP_011539021.1:p.Val1056Asp
XM_011540720.1:c.1400T>A	XP_011539022.1:p.Val467Asp
XM_011540721.1:c.755T>A	XP_011539023.1:p.Val252Asp
NR_134980.1:n.3501T>A
XM_017000334.1:c.3320T>A	XP_016855823.1:p.Val1107Asp
XM_017000335.1:c.3314T>A	XP_016855824.1:p.Val1105Asp
XM_017000336.1:c.3320T>A	XP_016855825.1:p.Val1107Asp
XM_017000337.1:c.1718T>A	XP_016855826.1:p.Val573Asp
NM_001854.4:c.3167T>A MANE Select	NP_001845.3:p.Val1056Asp
NM_080630.4:c.2819T>A	NP_542197.3:p.Val940Asp
NR_134980.2:n.3527T>A
NM_001190709.2:c.3050T>A	NP_001177638.1:p.Val1017Asp
NM_080629.3:c.3203T>A	NP_542196.2:p.Val1068Asp