Canonical Allele Identifier: CA341170946

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2638946
• ClinVar RCV Id: RCV003406622
• gnomAD v4: 1-102946871-G-T
• COSMIC: COSM319578 ; COSM319579
• MyVariant Identifiers: chr1:g.103412427G>T (hg19) ; chr1:g.102946871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946871G>T , CM000663.2:g.102946871G>T	GRCh38
NC_000001.10:g.103412427G>T , CM000663.1:g.103412427G>T	GRCh37
NC_000001.9:g.103185015G>T	NCBI36
NG_008033.1:g.166626C>A
NG_008033.2:g.166626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3254C>A MANE Select	ENSP00000359114.3:p.Pro1085Gln
ENST00000353414.8:c.3137C>A	ENSP00000302551.6:p.Pro1046Gln
ENST00000358392.6:c.3290C>A	ENSP00000351163.2:p.Pro1097Gln
ENST00000370096.7:c.3254C>A	ENSP00000359114.3:p.Pro1085Gln
ENST00000512756.5:c.2906C>A	ENSP00000426533.1:p.Pro969Gln
ENST00000635193.1:c.2588C>A
NM_001190709.1:c.3137C>A	NP_001177638.1:p.Pro1046Gln
NM_001854.3:c.3254C>A	NP_001845.3:p.Pro1085Gln
NM_080629.2:c.3290C>A	NP_542196.2:p.Pro1097Gln
NM_080630.3:c.2906C>A	NP_542197.3:p.Pro969Gln
XM_011540719.1:c.3254C>A	XP_011539021.1:p.Pro1085Gln
XM_011540720.1:c.1487C>A	XP_011539022.1:p.Pro496Gln
XM_011540721.1:c.842C>A	XP_011539023.1:p.Pro281Gln
NR_134980.1:n.3588C>A
XM_017000334.1:c.3407C>A	XP_016855823.1:p.Pro1136Gln
XM_017000335.1:c.3401C>A	XP_016855824.1:p.Pro1134Gln
XM_017000336.1:c.3407C>A	XP_016855825.1:p.Pro1136Gln
XM_017000337.1:c.1805C>A	XP_016855826.1:p.Pro602Gln
NM_001854.4:c.3254C>A MANE Select	NP_001845.3:p.Pro1085Gln
NM_080630.4:c.2906C>A	NP_542197.3:p.Pro969Gln
NR_134980.2:n.3614C>A
NM_001190709.2:c.3137C>A	NP_001177638.1:p.Pro1046Gln
NM_080629.3:c.3290C>A	NP_542196.2:p.Pro1097Gln