Canonical Allele Identifier: CA341171243

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412472G>C (hg19) ; chr1:g.102946916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946916G>C , CM000663.2:g.102946916G>C	GRCh38
NC_000001.10:g.103412472G>C , CM000663.1:g.103412472G>C	GRCh37
NC_000001.9:g.103185060G>C	NCBI36
NG_008033.1:g.166581C>G
NG_008033.2:g.166581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3209C>G MANE Select	ENSP00000359114.3:p.Pro1070Arg
ENST00000353414.8:c.3092C>G	ENSP00000302551.6:p.Pro1031Arg
ENST00000358392.6:c.3245C>G	ENSP00000351163.2:p.Pro1082Arg
ENST00000370096.7:c.3209C>G	ENSP00000359114.3:p.Pro1070Arg
ENST00000512756.5:c.2861C>G	ENSP00000426533.1:p.Pro954Arg
ENST00000635193.1:c.2543C>G
NM_001190709.1:c.3092C>G	NP_001177638.1:p.Pro1031Arg
NM_001854.3:c.3209C>G	NP_001845.3:p.Pro1070Arg
NM_080629.2:c.3245C>G	NP_542196.2:p.Pro1082Arg
NM_080630.3:c.2861C>G	NP_542197.3:p.Pro954Arg
XM_011540719.1:c.3209C>G	XP_011539021.1:p.Pro1070Arg
XM_011540720.1:c.1442C>G	XP_011539022.1:p.Pro481Arg
XM_011540721.1:c.797C>G	XP_011539023.1:p.Pro266Arg
NR_134980.1:n.3543C>G
XM_017000334.1:c.3362C>G	XP_016855823.1:p.Pro1121Arg
XM_017000335.1:c.3356C>G	XP_016855824.1:p.Pro1119Arg
XM_017000336.1:c.3362C>G	XP_016855825.1:p.Pro1121Arg
XM_017000337.1:c.1760C>G	XP_016855826.1:p.Pro587Arg
NM_001854.4:c.3209C>G MANE Select	NP_001845.3:p.Pro1070Arg
NM_080630.4:c.2861C>G	NP_542197.3:p.Pro954Arg
NR_134980.2:n.3569C>G
NM_001190709.2:c.3092C>G	NP_001177638.1:p.Pro1031Arg
NM_080629.3:c.3245C>G	NP_542196.2:p.Pro1082Arg