Canonical Allele Identifier: CA341163404

Gene: COL11A1

Linked Data

• dbSNP Id: rs1662766850
• gnomAD v4: 1-102978903-C-A
• MyVariant Identifiers: chr1:g.103444459C>A (hg19) ; chr1:g.102978903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978903C>A , CM000663.2:g.102978903C>A	GRCh38
NC_000001.10:g.103444459C>A , CM000663.1:g.103444459C>A	GRCh37
NC_000001.9:g.103217047C>A	NCBI36
NG_008033.1:g.134594G>T
NG_008033.2:g.134594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2666G>T MANE Select	ENSP00000359114.3:p.Gly889Val
ENST00000353414.8:c.2549G>T	ENSP00000302551.6:p.Gly850Val
ENST00000358392.6:c.2702G>T	ENSP00000351163.2:p.Gly901Val
ENST00000370096.7:c.2666G>T	ENSP00000359114.3:p.Gly889Val
ENST00000512756.5:c.2318G>T	ENSP00000426533.1:p.Gly773Val
ENST00000635193.1:c.2000G>T
NM_001190709.1:c.2549G>T	NP_001177638.1:p.Gly850Val
NM_001854.3:c.2666G>T	NP_001845.3:p.Gly889Val
NM_080629.2:c.2702G>T	NP_542196.2:p.Gly901Val
NM_080630.3:c.2318G>T	NP_542197.3:p.Gly773Val
XM_011540719.1:c.2666G>T	XP_011539021.1:p.Gly889Val
XM_011540720.1:c.899G>T	XP_011539022.1:p.Gly300Val
XM_011540721.1:c.254G>T	XP_011539023.1:p.Gly85Val
XR_946545.1:n.3080G>T
NR_134980.1:n.3000G>T
XM_017000334.1:c.2819G>T	XP_016855823.1:p.Gly940Val
XM_017000335.1:c.2813G>T	XP_016855824.1:p.Gly938Val
XM_017000336.1:c.2819G>T	XP_016855825.1:p.Gly940Val
XM_017000337.1:c.1217G>T	XP_016855826.1:p.Gly406Val
NM_001854.4:c.2666G>T MANE Select	NP_001845.3:p.Gly889Val
NM_080630.4:c.2318G>T	NP_542197.3:p.Gly773Val
NR_134980.2:n.3026G>T
NM_001190709.2:c.2549G>T	NP_001177638.1:p.Gly850Val
NM_080629.3:c.2702G>T	NP_542196.2:p.Gly901Val