Canonical Allele Identifier: CA341171414

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1801138
• ClinVar RCV Id: RCV002462735
• gnomAD v4: 1-102946940-C-A
• MyVariant Identifiers: chr1:g.103412496C>A (hg19) ; chr1:g.102946940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946940C>A , CM000663.2:g.102946940C>A	GRCh38
NC_000001.10:g.103412496C>A , CM000663.1:g.103412496C>A	GRCh37
NC_000001.9:g.103185084C>A	NCBI36
NG_008033.1:g.166557G>T
NG_008033.2:g.166557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3185G>T MANE Select	ENSP00000359114.3:p.Arg1062Leu
ENST00000353414.8:c.3068G>T	ENSP00000302551.6:p.Arg1023Leu
ENST00000358392.6:c.3221G>T	ENSP00000351163.2:p.Arg1074Leu
ENST00000370096.7:c.3185G>T	ENSP00000359114.3:p.Arg1062Leu
ENST00000512756.5:c.2837G>T	ENSP00000426533.1:p.Arg946Leu
ENST00000635193.1:c.2519G>T
NM_001190709.1:c.3068G>T	NP_001177638.1:p.Arg1023Leu
NM_001854.3:c.3185G>T	NP_001845.3:p.Arg1062Leu
NM_080629.2:c.3221G>T	NP_542196.2:p.Arg1074Leu
NM_080630.3:c.2837G>T	NP_542197.3:p.Arg946Leu
XM_011540719.1:c.3185G>T	XP_011539021.1:p.Arg1062Leu
XM_011540720.1:c.1418G>T	XP_011539022.1:p.Arg473Leu
XM_011540721.1:c.773G>T	XP_011539023.1:p.Arg258Leu
NR_134980.1:n.3519G>T
XM_017000334.1:c.3338G>T	XP_016855823.1:p.Arg1113Leu
XM_017000335.1:c.3332G>T	XP_016855824.1:p.Arg1111Leu
XM_017000336.1:c.3338G>T	XP_016855825.1:p.Arg1113Leu
XM_017000337.1:c.1736G>T	XP_016855826.1:p.Arg579Leu
NM_001854.4:c.3185G>T MANE Select	NP_001845.3:p.Arg1062Leu
NM_080630.4:c.2837G>T	NP_542197.3:p.Arg946Leu
NR_134980.2:n.3545G>T
NM_001190709.2:c.3068G>T	NP_001177638.1:p.Arg1023Leu
NM_080629.3:c.3221G>T	NP_542196.2:p.Arg1074Leu