Canonical Allele Identifier: CA419253432

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102879788C>T , CM000663.2:g.102879788C>T	GRCh38
NC_000001.10:g.103345344C>T , CM000663.1:g.103345344C>T	GRCh37
NC_000001.9:g.103117932C>T	NCBI36
NG_008033.1:g.233709G>A
NG_008033.2:g.233709G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5169G>A MANE Select	NP_001845.3:p.Val1723=
ENST00000370096.9:c.5169G>A MANE Select	ENSP00000359114.3:p.Val1723=
NM_001190709.1:c.5052G>A	NP_001177638.1:p.Val1684=
NM_001190709.2:c.5052G>A	NP_001177638.1:p.Val1684=
NM_001854.3:c.5169G>A	NP_001845.3:p.Val1723=
NM_080629.2:c.5205G>A	NP_542196.2:p.Val1735=
NM_080629.3:c.5205G>A	NP_542196.2:p.Val1735=
NM_080630.3:c.4821G>A	NP_542197.3:p.Val1607=
NM_080630.4:c.4821G>A	NP_542197.3:p.Val1607=
NR_134980.1:n.5503G>A
NR_134980.2:n.5529G>A
ENST00000353414.8:c.5052G>A	ENSP00000302551.6:p.Val1684=
ENST00000358392.6:c.5205G>A	ENSP00000351163.2:p.Val1735=
ENST00000370096.7:c.5169G>A	ENSP00000359114.3:p.Val1723=
ENST00000470170.1:n.231G>A
ENST00000512756.5:c.4821G>A	ENSP00000426533.1:p.Val1607=
ENST00000635193.1:c.4503G>A
ENST00000639098.1:n.542G>A
XM_011540720.1:c.3402G>A	XP_011539022.1:p.Val1134=
XM_011540721.1:c.2757G>A	XP_011539023.1:p.Val919=
XM_017000334.1:c.5322G>A	XP_016855823.1:p.Val1774=
XM_017000335.1:c.5316G>A	XP_016855824.1:p.Val1772=
XM_017000337.1:c.3720G>A	XP_016855826.1:p.Val1240=