Canonical Allele Identifier: CA974137

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 929473
• ClinVar RCV Id: RCV001257086
• dbSNP Id: rs764282256
• ExAC: 1:103427475 C / T
• gnomAD v2: 1-103427475-C-T
• gnomAD v4: 1-102961919-C-T
• MyVariant Identifiers: chr1:g.103427475C>T (hg19) ; chr1:g.102961919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961919C>T , CM000663.2:g.102961919C>T	GRCh38
NC_000001.10:g.103427475C>T , CM000663.1:g.103427475C>T	GRCh37
NC_000001.9:g.103200063C>T	NCBI36
NG_008033.1:g.151578G>A
NG_008033.2:g.151578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3115G>A MANE Select	ENSP00000359114.3:p.Gly1039Ser
ENST00000353414.8:c.2998G>A	ENSP00000302551.6:p.Gly1000Ser
ENST00000358392.6:c.3151G>A	ENSP00000351163.2:p.Gly1051Ser
ENST00000370096.7:c.3115G>A	ENSP00000359114.3:p.Gly1039Ser
ENST00000465209.1:n.123G>A
ENST00000512756.5:c.2767G>A	ENSP00000426533.1:p.Gly923Ser
ENST00000635193.1:c.2449G>A
NM_001190709.1:c.2998G>A	NP_001177638.1:p.Gly1000Ser
NM_001854.3:c.3115G>A	NP_001845.3:p.Gly1039Ser
NM_080629.2:c.3151G>A	NP_542196.2:p.Gly1051Ser
NM_080630.3:c.2767G>A	NP_542197.3:p.Gly923Ser
XM_011540719.1:c.3115G>A	XP_011539021.1:p.Gly1039Ser
XM_011540720.1:c.1348G>A	XP_011539022.1:p.Gly450Ser
XM_011540721.1:c.703G>A	XP_011539023.1:p.Gly235Ser
NR_134980.1:n.3449G>A
XM_017000334.1:c.3268G>A	XP_016855823.1:p.Gly1090Ser
XM_017000335.1:c.3262G>A	XP_016855824.1:p.Gly1088Ser
XM_017000336.1:c.3268G>A	XP_016855825.1:p.Gly1090Ser
XM_017000337.1:c.1666G>A	XP_016855826.1:p.Gly556Ser
NM_001854.4:c.3115G>A MANE Select	NP_001845.3:p.Gly1039Ser
NM_080630.4:c.2767G>A	NP_542197.3:p.Gly923Ser
NR_134980.2:n.3475G>A
NM_001190709.2:c.2998G>A	NP_001177638.1:p.Gly1000Ser
NM_080629.3:c.3151G>A	NP_542196.2:p.Gly1051Ser