Canonical Allele Identifier: CA341171411

Gene: COL11A1

Linked Data

• dbSNP Id: rs1337462128
• gnomAD v3: 1-102946938-C-A
• gnomAD v4: 1-102946938-C-A
• MyVariant Identifiers: chr1:g.103412494C>A (hg19) ; chr1:g.102946938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946938C>A , CM000663.2:g.102946938C>A	GRCh38
NC_000001.10:g.103412494C>A , CM000663.1:g.103412494C>A	GRCh37
NC_000001.9:g.103185082C>A	NCBI36
NG_008033.1:g.166559G>T
NG_008033.2:g.166559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3187G>T MANE Select	ENSP00000359114.3:p.Gly1063Trp
ENST00000353414.8:c.3070G>T	ENSP00000302551.6:p.Gly1024Trp
ENST00000358392.6:c.3223G>T	ENSP00000351163.2:p.Gly1075Trp
ENST00000370096.7:c.3187G>T	ENSP00000359114.3:p.Gly1063Trp
ENST00000512756.5:c.2839G>T	ENSP00000426533.1:p.Gly947Trp
ENST00000635193.1:c.2521G>T
NM_001190709.1:c.3070G>T	NP_001177638.1:p.Gly1024Trp
NM_001854.3:c.3187G>T	NP_001845.3:p.Gly1063Trp
NM_080629.2:c.3223G>T	NP_542196.2:p.Gly1075Trp
NM_080630.3:c.2839G>T	NP_542197.3:p.Gly947Trp
XM_011540719.1:c.3187G>T	XP_011539021.1:p.Gly1063Trp
XM_011540720.1:c.1420G>T	XP_011539022.1:p.Gly474Trp
XM_011540721.1:c.775G>T	XP_011539023.1:p.Gly259Trp
NR_134980.1:n.3521G>T
XM_017000334.1:c.3340G>T	XP_016855823.1:p.Gly1114Trp
XM_017000335.1:c.3334G>T	XP_016855824.1:p.Gly1112Trp
XM_017000336.1:c.3340G>T	XP_016855825.1:p.Gly1114Trp
XM_017000337.1:c.1738G>T	XP_016855826.1:p.Gly580Trp
NM_001854.4:c.3187G>T MANE Select	NP_001845.3:p.Gly1063Trp
NM_080630.4:c.2839G>T	NP_542197.3:p.Gly947Trp
NR_134980.2:n.3547G>T
NM_001190709.2:c.3070G>T	NP_001177638.1:p.Gly1024Trp
NM_080629.3:c.3223G>T	NP_542196.2:p.Gly1075Trp