Canonical Allele Identifier: CA341163046

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444302A>C (hg19) ; chr1:g.102978746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978746A>C , CM000663.2:g.102978746A>C	GRCh38
NC_000001.10:g.103444302A>C , CM000663.1:g.103444302A>C	GRCh37
NC_000001.9:g.103216890A>C	NCBI36
NG_008033.1:g.134751T>G
NG_008033.2:g.134751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2716T>G MANE Select	ENSP00000359114.3:p.Ser906Ala
ENST00000353414.8:c.2599T>G	ENSP00000302551.6:p.Ser867Ala
ENST00000358392.6:c.2752T>G	ENSP00000351163.2:p.Ser918Ala
ENST00000370096.7:c.2716T>G	ENSP00000359114.3:p.Ser906Ala
ENST00000512756.5:c.2368T>G	ENSP00000426533.1:p.Ser790Ala
ENST00000635193.1:c.2050T>G
NM_001190709.1:c.2599T>G	NP_001177638.1:p.Ser867Ala
NM_001854.3:c.2716T>G	NP_001845.3:p.Ser906Ala
NM_080629.2:c.2752T>G	NP_542196.2:p.Ser918Ala
NM_080630.3:c.2368T>G	NP_542197.3:p.Ser790Ala
XM_011540719.1:c.2716T>G	XP_011539021.1:p.Ser906Ala
XM_011540720.1:c.949T>G	XP_011539022.1:p.Ser317Ala
XM_011540721.1:c.304T>G	XP_011539023.1:p.Ser102Ala
XR_946545.1:n.3130T>G
NR_134980.1:n.3050T>G
XM_017000334.1:c.2869T>G	XP_016855823.1:p.Ser957Ala
XM_017000335.1:c.2863T>G	XP_016855824.1:p.Ser955Ala
XM_017000336.1:c.2869T>G	XP_016855825.1:p.Ser957Ala
XM_017000337.1:c.1267T>G	XP_016855826.1:p.Ser423Ala
NM_001854.4:c.2716T>G MANE Select	NP_001845.3:p.Ser906Ala
NM_080630.4:c.2368T>G	NP_542197.3:p.Ser790Ala
NR_134980.2:n.3076T>G
NM_001190709.2:c.2599T>G	NP_001177638.1:p.Ser867Ala
NM_080629.3:c.2752T>G	NP_542196.2:p.Ser918Ala