Canonical Allele Identifier: CA341162948

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444289C>G (hg19) ; chr1:g.102978733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978733C>G , CM000663.2:g.102978733C>G	GRCh38
NC_000001.10:g.103444289C>G , CM000663.1:g.103444289C>G	GRCh37
NC_000001.9:g.103216877C>G	NCBI36
NG_008033.1:g.134764G>C
NG_008033.2:g.134764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2729G>C MANE Select	ENSP00000359114.3:p.Gly910Ala
ENST00000353414.8:c.2612G>C	ENSP00000302551.6:p.Gly871Ala
ENST00000358392.6:c.2765G>C	ENSP00000351163.2:p.Gly922Ala
ENST00000370096.7:c.2729G>C	ENSP00000359114.3:p.Gly910Ala
ENST00000512756.5:c.2381G>C	ENSP00000426533.1:p.Gly794Ala
ENST00000635193.1:c.2063G>C
NM_001190709.1:c.2612G>C	NP_001177638.1:p.Gly871Ala
NM_001854.3:c.2729G>C	NP_001845.3:p.Gly910Ala
NM_080629.2:c.2765G>C	NP_542196.2:p.Gly922Ala
NM_080630.3:c.2381G>C	NP_542197.3:p.Gly794Ala
XM_011540719.1:c.2729G>C	XP_011539021.1:p.Gly910Ala
XM_011540720.1:c.962G>C	XP_011539022.1:p.Gly321Ala
XM_011540721.1:c.317G>C	XP_011539023.1:p.Gly106Ala
XR_946545.1:n.3143G>C
NR_134980.1:n.3063G>C
XM_017000334.1:c.2882G>C	XP_016855823.1:p.Gly961Ala
XM_017000335.1:c.2876G>C	XP_016855824.1:p.Gly959Ala
XM_017000336.1:c.2882G>C	XP_016855825.1:p.Gly961Ala
XM_017000337.1:c.1280G>C	XP_016855826.1:p.Gly427Ala
NM_001854.4:c.2729G>C MANE Select	NP_001845.3:p.Gly910Ala
NM_080630.4:c.2381G>C	NP_542197.3:p.Gly794Ala
NR_134980.2:n.3089G>C
NM_001190709.2:c.2612G>C	NP_001177638.1:p.Gly871Ala
NM_080629.3:c.2765G>C	NP_542196.2:p.Gly922Ala