Canonical Allele Identifier: CA341175237

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103006314C>A , CM000663.2:g.103006314C>A	GRCh38
NC_000001.10:g.103471870C>A , CM000663.1:g.103471870C>A	GRCh37
NC_000001.9:g.103244458C>A	NCBI36
NG_008033.1:g.107183G>T
NG_008033.2:g.107183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1685G>T MANE Select	ENSP00000359114.3:p.Gly562Val
ENST00000461720.6:c.1838G>T	ENSP00000494909.1:p.Gly613Val
ENST00000644186.1:c.1685G>T	ENSP00000493821.1:p.Gly562Val
ENST00000645458.1:c.1685G>T	ENSP00000494179.1:p.Gly562Val
ENST00000647280.1:c.1685G>T	ENSP00000494583.1:p.Gly562Val
ENST00000353414.8:c.1568G>T	ENSP00000302551.6:p.Gly523Val
ENST00000358392.6:c.1721G>T	ENSP00000351163.2:p.Gly574Val
ENST00000370096.7:c.1685G>T	ENSP00000359114.3:p.Gly562Val
ENST00000461720.5:n.33G>T
ENST00000512756.5:c.1337G>T	ENSP00000426533.1:p.Gly446Val
ENST00000635193.1:c.1003G>T
NM_001190709.1:c.1568G>T	NP_001177638.1:p.Gly523Val
NM_001854.3:c.1685G>T	NP_001845.3:p.Gly562Val
NM_080629.2:c.1721G>T	NP_542196.2:p.Gly574Val
NM_080630.3:c.1337G>T	NP_542197.3:p.Gly446Val
XM_011540719.1:c.1685G>T	XP_011539021.1:p.Gly562Val
XM_011540720.1:c.-83G>T	XP_011539022.1:n.-83G>T
XM_011540721.1:c.-744G>T	XP_011539023.1:n.-744G>T
XR_946545.1:n.2083G>T
NR_134980.1:n.2003G>T
XM_017000334.1:c.1838G>T	XP_016855823.1:p.Gly613Val
XM_017000335.1:c.1832G>T	XP_016855824.1:p.Gly611Val
XM_017000336.1:c.1838G>T	XP_016855825.1:p.Gly613Val
XM_017000337.1:c.236G>T	XP_016855826.1:p.Gly79Val
NM_001854.4:c.1685G>T MANE Select	NP_001845.3:p.Gly562Val
NM_080630.4:c.1337G>T	NP_542197.3:p.Gly446Val
NR_134980.2:n.2029G>T
NM_001190709.2:c.1568G>T	NP_001177638.1:p.Gly523Val
NM_080629.3:c.1721G>T	NP_542196.2:p.Gly574Val