Canonical Allele Identifier: CA27703069

Gene: COL11A1

Linked Data

• dbSNP Id: rs141074922
• gnomAD v2: 1-103444075-A-T
• gnomAD v3: 1-102978519-A-T
• gnomAD v4: 1-102978519-A-T
• MyVariant Identifiers: chr1:g.103444075A>T (hg19) ; chr1:g.102978519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978519A>T , CM000663.2:g.102978519A>T	GRCh38
NC_000001.10:g.103444075A>T , CM000663.1:g.103444075A>T	GRCh37
NC_000001.9:g.103216663A>T	NCBI36
NG_008033.1:g.134978T>A
NG_008033.2:g.134978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754+189T>A MANE Select	ENSP00000359114.3:n.2754+189T>A
ENST00000353414.8:c.2637+189T>A	ENSP00000302551.6:n.2637+189T>A
ENST00000358392.6:c.2790+189T>A	ENSP00000351163.2:n.2790+189T>A
ENST00000370096.7:c.2754+189T>A	ENSP00000359114.3:n.2754+189T>A
ENST00000512756.5:c.2406+189T>A	ENSP00000426533.1:n.2406+189T>A
ENST00000635193.1:c.2088+189T>A
NM_001190709.1:c.2637+189T>A	NP_001177638.1:n.2637+189T>A
NM_001854.3:c.2754+189T>A	NP_001845.3:n.2754+189T>A
NM_080629.2:c.2790+189T>A	NP_542196.2:n.2790+189T>A
NM_080630.3:c.2406+189T>A	NP_542197.3:n.2406+189T>A
XM_011540719.1:c.2754+189T>A	XP_011539021.1:n.2754+189T>A
XM_011540720.1:c.987+189T>A	XP_011539022.1:n.987+189T>A
XM_011540721.1:c.342+189T>A	XP_011539023.1:n.342+189T>A
XR_946545.1:n.3168+189T>A
NR_134980.1:n.3088+189T>A
XM_017000334.1:c.2907+189T>A	XP_016855823.1:n.2907+189T>A
XM_017000335.1:c.2901+189T>A	XP_016855824.1:n.2901+189T>A
XM_017000336.1:c.2907+189T>A	XP_016855825.1:n.2907+189T>A
XM_017000337.1:c.1305+189T>A	XP_016855826.1:n.1305+189T>A
NM_001854.4:c.2754+189T>A MANE Select	NP_001845.3:n.2754+189T>A
NM_080630.4:c.2406+189T>A	NP_542197.3:n.2406+189T>A
NR_134980.2:n.3114+189T>A
NM_001190709.2:c.2637+189T>A	NP_001177638.1:n.2637+189T>A
NM_080629.3:c.2790+189T>A	NP_542196.2:n.2790+189T>A