Canonical Allele Identifier: CA341171381

Gene: COL11A1

Linked Data

• dbSNP Id: rs1659352981
• MyVariant Identifiers: chr1:g.103412488C>G (hg19) ; chr1:g.102946932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946932C>G , CM000663.2:g.102946932C>G	GRCh38
NC_000001.10:g.103412488C>G , CM000663.1:g.103412488C>G	GRCh37
NC_000001.9:g.103185076C>G	NCBI36
NG_008033.1:g.166565G>C
NG_008033.2:g.166565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3193G>C MANE Select	ENSP00000359114.3:p.Ala1065Pro
ENST00000353414.8:c.3076G>C	ENSP00000302551.6:p.Ala1026Pro
ENST00000358392.6:c.3229G>C	ENSP00000351163.2:p.Ala1077Pro
ENST00000370096.7:c.3193G>C	ENSP00000359114.3:p.Ala1065Pro
ENST00000512756.5:c.2845G>C	ENSP00000426533.1:p.Ala949Pro
ENST00000635193.1:c.2527G>C
NM_001190709.1:c.3076G>C	NP_001177638.1:p.Ala1026Pro
NM_001854.3:c.3193G>C	NP_001845.3:p.Ala1065Pro
NM_080629.2:c.3229G>C	NP_542196.2:p.Ala1077Pro
NM_080630.3:c.2845G>C	NP_542197.3:p.Ala949Pro
XM_011540719.1:c.3193G>C	XP_011539021.1:p.Ala1065Pro
XM_011540720.1:c.1426G>C	XP_011539022.1:p.Ala476Pro
XM_011540721.1:c.781G>C	XP_011539023.1:p.Ala261Pro
NR_134980.1:n.3527G>C
XM_017000334.1:c.3346G>C	XP_016855823.1:p.Ala1116Pro
XM_017000335.1:c.3340G>C	XP_016855824.1:p.Ala1114Pro
XM_017000336.1:c.3346G>C	XP_016855825.1:p.Ala1116Pro
XM_017000337.1:c.1744G>C	XP_016855826.1:p.Ala582Pro
NM_001854.4:c.3193G>C MANE Select	NP_001845.3:p.Ala1065Pro
NM_080630.4:c.2845G>C	NP_542197.3:p.Ala949Pro
NR_134980.2:n.3553G>C
NM_001190709.2:c.3076G>C	NP_001177638.1:p.Ala1026Pro
NM_080629.3:c.3229G>C	NP_542196.2:p.Ala1077Pro