Canonical Allele Identifier: CA341171311

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2705628
• ClinVar RCV Id: RCV003575525
• MyVariant Identifiers: chr1:g.103412478G>C (hg19) ; chr1:g.102946922G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946922G>C , CM000663.2:g.102946922G>C	GRCh38
NC_000001.10:g.103412478G>C , CM000663.1:g.103412478G>C	GRCh37
NC_000001.9:g.103185066G>C	NCBI36
NG_008033.1:g.166575C>G
NG_008033.2:g.166575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3203C>G MANE Select	ENSP00000359114.3:p.Ala1068Gly
ENST00000353414.8:c.3086C>G	ENSP00000302551.6:p.Ala1029Gly
ENST00000358392.6:c.3239C>G	ENSP00000351163.2:p.Ala1080Gly
ENST00000370096.7:c.3203C>G	ENSP00000359114.3:p.Ala1068Gly
ENST00000512756.5:c.2855C>G	ENSP00000426533.1:p.Ala952Gly
ENST00000635193.1:c.2537C>G
NM_001190709.1:c.3086C>G	NP_001177638.1:p.Ala1029Gly
NM_001854.3:c.3203C>G	NP_001845.3:p.Ala1068Gly
NM_080629.2:c.3239C>G	NP_542196.2:p.Ala1080Gly
NM_080630.3:c.2855C>G	NP_542197.3:p.Ala952Gly
XM_011540719.1:c.3203C>G	XP_011539021.1:p.Ala1068Gly
XM_011540720.1:c.1436C>G	XP_011539022.1:p.Ala479Gly
XM_011540721.1:c.791C>G	XP_011539023.1:p.Ala264Gly
NR_134980.1:n.3537C>G
XM_017000334.1:c.3356C>G	XP_016855823.1:p.Ala1119Gly
XM_017000335.1:c.3350C>G	XP_016855824.1:p.Ala1117Gly
XM_017000336.1:c.3356C>G	XP_016855825.1:p.Ala1119Gly
XM_017000337.1:c.1754C>G	XP_016855826.1:p.Ala585Gly
NM_001854.4:c.3203C>G MANE Select	NP_001845.3:p.Ala1068Gly
NM_080630.4:c.2855C>G	NP_542197.3:p.Ala952Gly
NR_134980.2:n.3563C>G
NM_001190709.2:c.3086C>G	NP_001177638.1:p.Ala1029Gly
NM_080629.3:c.3239C>G	NP_542196.2:p.Ala1080Gly