Canonical Allele Identifier: CA1005172470

Gene: COL11A1

Linked Data

• dbSNP Id: rs891172651
• gnomAD v3: 1-102979006-G-A
• gnomAD v4: 1-102979006-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979006G>A , CM000663.2:g.102979006G>A	GRCh38
NC_000001.10:g.103444562G>A , CM000663.1:g.103444562G>A	GRCh37
NC_000001.9:g.103217150G>A	NCBI36
NG_008033.1:g.134491C>T
NG_008033.2:g.134491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2655+54C>T MANE Select	ENSP00000359114.3:n.2655+54C>T
ENST00000353414.8:c.2538+54C>T	ENSP00000302551.6:n.2538+54C>T
ENST00000358392.6:c.2691+54C>T	ENSP00000351163.2:n.2691+54C>T
ENST00000370096.7:c.2655+54C>T	ENSP00000359114.3:n.2655+54C>T
ENST00000512756.5:c.2307+54C>T	ENSP00000426533.1:n.2307+54C>T
ENST00000635193.1:c.1989+54C>T
NM_001190709.1:c.2538+54C>T	NP_001177638.1:n.2538+54C>T
NM_001854.3:c.2655+54C>T	NP_001845.3:n.2655+54C>T
NM_080629.2:c.2691+54C>T	NP_542196.2:n.2691+54C>T
NM_080630.3:c.2307+54C>T	NP_542197.3:n.2307+54C>T
XM_011540719.1:c.2655+54C>T	XP_011539021.1:n.2655+54C>T
XM_011540720.1:c.888+54C>T	XP_011539022.1:n.888+54C>T
XM_011540721.1:c.243+54C>T	XP_011539023.1:n.243+54C>T
XR_946545.1:n.3069+54C>T
NR_134980.1:n.2989+54C>T
XM_017000334.1:c.2808+54C>T	XP_016855823.1:n.2808+54C>T
XM_017000335.1:c.2802+54C>T	XP_016855824.1:n.2802+54C>T
XM_017000336.1:c.2808+54C>T	XP_016855825.1:n.2808+54C>T
XM_017000337.1:c.1206+54C>T	XP_016855826.1:n.1206+54C>T
NM_001854.4:c.2655+54C>T MANE Select	NP_001845.3:n.2655+54C>T
NM_080630.4:c.2307+54C>T	NP_542197.3:n.2307+54C>T
NR_134980.2:n.3015+54C>T
NM_001190709.2:c.2538+54C>T	NP_001177638.1:n.2538+54C>T
NM_080629.3:c.2691+54C>T	NP_542196.2:n.2691+54C>T