Canonical Allele Identifier: CA341163604

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444630G>C (hg19) ; chr1:g.102979074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979074G>C , CM000663.2:g.102979074G>C	GRCh38
NC_000001.10:g.103444630G>C , CM000663.1:g.103444630G>C	GRCh37
NC_000001.9:g.103217218G>C	NCBI36
NG_008033.1:g.134423C>G
NG_008033.2:g.134423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2641C>G MANE Select	ENSP00000359114.3:p.Gln881Glu
ENST00000353414.8:c.2524C>G	ENSP00000302551.6:p.Gln842Glu
ENST00000358392.6:c.2677C>G	ENSP00000351163.2:p.Gln893Glu
ENST00000370096.7:c.2641C>G	ENSP00000359114.3:p.Gln881Glu
ENST00000512756.5:c.2293C>G	ENSP00000426533.1:p.Gln765Glu
ENST00000635193.1:c.1975C>G
NM_001190709.1:c.2524C>G	NP_001177638.1:p.Gln842Glu
NM_001854.3:c.2641C>G	NP_001845.3:p.Gln881Glu
NM_080629.2:c.2677C>G	NP_542196.2:p.Gln893Glu
NM_080630.3:c.2293C>G	NP_542197.3:p.Gln765Glu
XM_011540719.1:c.2641C>G	XP_011539021.1:p.Gln881Glu
XM_011540720.1:c.874C>G	XP_011539022.1:p.Gln292Glu
XM_011540721.1:c.229C>G	XP_011539023.1:p.Gln77Glu
XR_946545.1:n.3055C>G
NR_134980.1:n.2975C>G
XM_017000334.1:c.2794C>G	XP_016855823.1:p.Gln932Glu
XM_017000335.1:c.2788C>G	XP_016855824.1:p.Gln930Glu
XM_017000336.1:c.2794C>G	XP_016855825.1:p.Gln932Glu
XM_017000337.1:c.1192C>G	XP_016855826.1:p.Gln398Glu
NM_001854.4:c.2641C>G MANE Select	NP_001845.3:p.Gln881Glu
NM_080630.4:c.2293C>G	NP_542197.3:p.Gln765Glu
NR_134980.2:n.3001C>G
NM_001190709.2:c.2524C>G	NP_001177638.1:p.Gln842Glu
NM_080629.3:c.2677C>G	NP_542196.2:p.Gln893Glu