Canonical Allele Identifier: CA419205499

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2135539
• ClinVar RCV Id: RCV003048668
• gnomAD v4: 1-102946903-T-C
• MyVariant Identifiers: chr1:g.103412459T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946903T>C , CM000663.2:g.102946903T>C	GRCh38
NC_000001.10:g.103412459T>C , CM000663.1:g.103412459T>C	GRCh37
NC_000001.9:g.103185047T>C	NCBI36
NG_008033.1:g.166594A>G
NG_008033.2:g.166594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3222A>G MANE Select	ENSP00000359114.3:p.Pro1074=
ENST00000353414.8:c.3105A>G	ENSP00000302551.6:p.Pro1035=
ENST00000358392.6:c.3258A>G	ENSP00000351163.2:p.Pro1086=
ENST00000370096.7:c.3222A>G	ENSP00000359114.3:p.Pro1074=
ENST00000512756.5:c.2874A>G	ENSP00000426533.1:p.Pro958=
ENST00000635193.1:c.2556A>G
NM_001190709.1:c.3105A>G	NP_001177638.1:p.Pro1035=
NM_001854.3:c.3222A>G	NP_001845.3:p.Pro1074=
NM_080629.2:c.3258A>G	NP_542196.2:p.Pro1086=
NM_080630.3:c.2874A>G	NP_542197.3:p.Pro958=
XM_011540719.1:c.3222A>G	XP_011539021.1:p.Pro1074=
XM_011540720.1:c.1455A>G	XP_011539022.1:p.Pro485=
XM_011540721.1:c.810A>G	XP_011539023.1:p.Pro270=
NR_134980.1:n.3556A>G
XM_017000334.1:c.3375A>G	XP_016855823.1:p.Pro1125=
XM_017000335.1:c.3369A>G	XP_016855824.1:p.Pro1123=
XM_017000336.1:c.3375A>G	XP_016855825.1:p.Pro1125=
XM_017000337.1:c.1773A>G	XP_016855826.1:p.Pro591=
NM_001854.4:c.3222A>G MANE Select	NP_001845.3:p.Pro1074=
NM_080630.4:c.2874A>G	NP_542197.3:p.Pro958=
NR_134980.2:n.3582A>G
NM_001190709.2:c.3105A>G	NP_001177638.1:p.Pro1035=
NM_080629.3:c.3258A>G	NP_542196.2:p.Pro1086=