Canonical Allele Identifier: CA341163689

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102979088-G-C
• MyVariant Identifiers: chr1:g.103444644G>C (hg19) ; chr1:g.102979088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979088G>C , CM000663.2:g.102979088G>C	GRCh38
NC_000001.10:g.103444644G>C , CM000663.1:g.103444644G>C	GRCh37
NC_000001.9:g.103217232G>C	NCBI36
NG_008033.1:g.134409C>G
NG_008033.2:g.134409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2627C>G MANE Select	ENSP00000359114.3:p.Pro876Arg
ENST00000353414.8:c.2510C>G	ENSP00000302551.6:p.Pro837Arg
ENST00000358392.6:c.2663C>G	ENSP00000351163.2:p.Pro888Arg
ENST00000370096.7:c.2627C>G	ENSP00000359114.3:p.Pro876Arg
ENST00000512756.5:c.2279C>G	ENSP00000426533.1:p.Pro760Arg
ENST00000635193.1:c.1961C>G
NM_001190709.1:c.2510C>G	NP_001177638.1:p.Pro837Arg
NM_001854.3:c.2627C>G	NP_001845.3:p.Pro876Arg
NM_080629.2:c.2663C>G	NP_542196.2:p.Pro888Arg
NM_080630.3:c.2279C>G	NP_542197.3:p.Pro760Arg
XM_011540719.1:c.2627C>G	XP_011539021.1:p.Pro876Arg
XM_011540720.1:c.860C>G	XP_011539022.1:p.Pro287Arg
XM_011540721.1:c.215C>G	XP_011539023.1:p.Pro72Arg
XR_946545.1:n.3041C>G
NR_134980.1:n.2961C>G
XM_017000334.1:c.2780C>G	XP_016855823.1:p.Pro927Arg
XM_017000335.1:c.2774C>G	XP_016855824.1:p.Pro925Arg
XM_017000336.1:c.2780C>G	XP_016855825.1:p.Pro927Arg
XM_017000337.1:c.1178C>G	XP_016855826.1:p.Pro393Arg
NM_001854.4:c.2627C>G MANE Select	NP_001845.3:p.Pro876Arg
NM_080630.4:c.2279C>G	NP_542197.3:p.Pro760Arg
NR_134980.2:n.2987C>G
NM_001190709.2:c.2510C>G	NP_001177638.1:p.Pro837Arg
NM_080629.3:c.2663C>G	NP_542196.2:p.Pro888Arg