Canonical Allele Identifier: CA16043725

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 374386
• ClinVar RCV Id: RCV000414977 ; RCV000489508
• dbSNP Id: rs1057518666
• MyVariant Identifiers: chr1:g.103444259C>T (hg19) ; chr1:g.102978703C>T (hg38)
• PubMed: PMID:20513134

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978703C>T , CM000663.2:g.102978703C>T	GRCh38
NC_000001.10:g.103444259C>T , CM000663.1:g.103444259C>T	GRCh37
NC_000001.9:g.103216847C>T	NCBI36
NG_008033.1:g.134794G>A
NG_008033.2:g.134794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754+5G>A MANE Select	ENSP00000359114.3:n.2754+5G>A
ENST00000353414.8:c.2637+5G>A	ENSP00000302551.6:n.2637+5G>A
ENST00000358392.6:c.2790+5G>A	ENSP00000351163.2:n.2790+5G>A
ENST00000370096.7:c.2754+5G>A	ENSP00000359114.3:n.2754+5G>A
ENST00000512756.5:c.2406+5G>A	ENSP00000426533.1:n.2406+5G>A
ENST00000635193.1:c.2088+5G>A
NM_001190709.1:c.2637+5G>A	NP_001177638.1:n.2637+5G>A
NM_001854.3:c.2754+5G>A	NP_001845.3:n.2754+5G>A
NM_080629.2:c.2790+5G>A	NP_542196.2:n.2790+5G>A
NM_080630.3:c.2406+5G>A	NP_542197.3:n.2406+5G>A
XM_011540719.1:c.2754+5G>A	XP_011539021.1:n.2754+5G>A
XM_011540720.1:c.987+5G>A	XP_011539022.1:n.987+5G>A
XM_011540721.1:c.342+5G>A	XP_011539023.1:n.342+5G>A
XR_946545.1:n.3168+5G>A
NR_134980.1:n.3088+5G>A
XM_017000334.1:c.2907+5G>A	XP_016855823.1:n.2907+5G>A
XM_017000335.1:c.2901+5G>A	XP_016855824.1:n.2901+5G>A
XM_017000336.1:c.2907+5G>A	XP_016855825.1:n.2907+5G>A
XM_017000337.1:c.1305+5G>A	XP_016855826.1:n.1305+5G>A
NM_001854.4:c.2754+5G>A MANE Select	NP_001845.3:n.2754+5G>A
NM_080630.4:c.2406+5G>A	NP_542197.3:n.2406+5G>A
NR_134980.2:n.3114+5G>A
NM_001190709.2:c.2637+5G>A	NP_001177638.1:n.2637+5G>A
NM_080629.3:c.2790+5G>A	NP_542196.2:n.2790+5G>A