Canonical Allele Identifier: CA341161925

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102974829C>T , CM000663.2:g.102974829C>T	GRCh38
NC_000001.10:g.103440385C>T , CM000663.1:g.103440385C>T	GRCh37
NC_000001.9:g.103212973C>T	NCBI36
NG_008033.1:g.138668G>A
NG_008033.2:g.138668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2808+1G>A MANE Select	ENSP00000359114.3:n.2808+1G>A
ENST00000353414.8:c.2691+1G>A	ENSP00000302551.6:n.2691+1G>A
ENST00000358392.6:c.2844+1G>A	ENSP00000351163.2:n.2844+1G>A
ENST00000370096.7:c.2808+1G>A	ENSP00000359114.3:n.2808+1G>A
ENST00000512756.5:c.2460+1G>A	ENSP00000426533.1:n.2460+1G>A
ENST00000635193.1:c.2142+1G>A
NM_001190709.1:c.2691+1G>A	NP_001177638.1:n.2691+1G>A
NM_001854.3:c.2808+1G>A	NP_001845.3:n.2808+1G>A
NM_080629.2:c.2844+1G>A	NP_542196.2:n.2844+1G>A
NM_080630.3:c.2460+1G>A	NP_542197.3:n.2460+1G>A
XM_011540719.1:c.2808+1G>A	XP_011539021.1:n.2808+1G>A
XM_011540720.1:c.1041+1G>A	XP_011539022.1:n.1041+1G>A
XM_011540721.1:c.396+1G>A	XP_011539023.1:n.396+1G>A
XR_946545.1:n.3222+1G>A
NR_134980.1:n.3142+1G>A
XM_017000334.1:c.2961+1G>A	XP_016855823.1:n.2961+1G>A
XM_017000335.1:c.2955+1G>A	XP_016855824.1:n.2955+1G>A
XM_017000336.1:c.2961+1G>A	XP_016855825.1:n.2961+1G>A
XM_017000337.1:c.1359+1G>A	XP_016855826.1:n.1359+1G>A
NM_001854.4:c.2808+1G>A MANE Select	NP_001845.3:n.2808+1G>A
NM_080630.4:c.2460+1G>A	NP_542197.3:n.2460+1G>A
NR_134980.2:n.3168+1G>A
NM_001190709.2:c.2691+1G>A	NP_001177638.1:n.2691+1G>A
NM_080629.3:c.2844+1G>A	NP_542196.2:n.2844+1G>A