Canonical Allele Identifier: CA419200439

Gene: COL11A1

Linked Data

• dbSNP Id: rs1400939209
• gnomAD v2: 1-103444658-T-G
• gnomAD v4: 1-102979102-T-G
• MyVariant Identifiers: chr1:g.103444658T>G (hg19) ; chr1:g.102979102T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979102T>G , CM000663.2:g.102979102T>G	GRCh38
NC_000001.10:g.103444658T>G , CM000663.1:g.103444658T>G	GRCh37
NC_000001.9:g.103217246T>G	NCBI36
NG_008033.1:g.134395A>C
NG_008033.2:g.134395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2613A>C MANE Select	ENSP00000359114.3:p.Gly871=
ENST00000353414.8:c.2496A>C	ENSP00000302551.6:p.Gly832=
ENST00000358392.6:c.2649A>C	ENSP00000351163.2:p.Gly883=
ENST00000370096.7:c.2613A>C	ENSP00000359114.3:p.Gly871=
ENST00000512756.5:c.2265A>C	ENSP00000426533.1:p.Gly755=
ENST00000635193.1:c.1947A>C
NM_001190709.1:c.2496A>C	NP_001177638.1:p.Gly832=
NM_001854.3:c.2613A>C	NP_001845.3:p.Gly871=
NM_080629.2:c.2649A>C	NP_542196.2:p.Gly883=
NM_080630.3:c.2265A>C	NP_542197.3:p.Gly755=
XM_011540719.1:c.2613A>C	XP_011539021.1:p.Gly871=
XM_011540720.1:c.846A>C	XP_011539022.1:p.Gly282=
XM_011540721.1:c.201A>C	XP_011539023.1:p.Gly67=
XR_946545.1:n.3027A>C
NR_134980.1:n.2947A>C
XM_017000334.1:c.2766A>C	XP_016855823.1:p.Gly922=
XM_017000335.1:c.2760A>C	XP_016855824.1:p.Gly920=
XM_017000336.1:c.2766A>C	XP_016855825.1:p.Gly922=
XM_017000337.1:c.1164A>C	XP_016855826.1:p.Gly388=
NM_001854.4:c.2613A>C MANE Select	NP_001845.3:p.Gly871=
NM_080630.4:c.2265A>C	NP_542197.3:p.Gly755=
NR_134980.2:n.2973A>C
NM_001190709.2:c.2496A>C	NP_001177638.1:p.Gly832=
NM_080629.3:c.2649A>C	NP_542196.2:p.Gly883=