Canonical Allele Identifier: CA341163698

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102979089-G-C
• MyVariant Identifiers: chr1:g.103444645G>C (hg19) ; chr1:g.102979089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979089G>C , CM000663.2:g.102979089G>C	GRCh38
NC_000001.10:g.103444645G>C , CM000663.1:g.103444645G>C	GRCh37
NC_000001.9:g.103217233G>C	NCBI36
NG_008033.1:g.134408C>G
NG_008033.2:g.134408C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2626C>G MANE Select	ENSP00000359114.3:p.Pro876Ala
ENST00000353414.8:c.2509C>G	ENSP00000302551.6:p.Pro837Ala
ENST00000358392.6:c.2662C>G	ENSP00000351163.2:p.Pro888Ala
ENST00000370096.7:c.2626C>G	ENSP00000359114.3:p.Pro876Ala
ENST00000512756.5:c.2278C>G	ENSP00000426533.1:p.Pro760Ala
ENST00000635193.1:c.1960C>G
NM_001190709.1:c.2509C>G	NP_001177638.1:p.Pro837Ala
NM_001854.3:c.2626C>G	NP_001845.3:p.Pro876Ala
NM_080629.2:c.2662C>G	NP_542196.2:p.Pro888Ala
NM_080630.3:c.2278C>G	NP_542197.3:p.Pro760Ala
XM_011540719.1:c.2626C>G	XP_011539021.1:p.Pro876Ala
XM_011540720.1:c.859C>G	XP_011539022.1:p.Pro287Ala
XM_011540721.1:c.214C>G	XP_011539023.1:p.Pro72Ala
XR_946545.1:n.3040C>G
NR_134980.1:n.2960C>G
XM_017000334.1:c.2779C>G	XP_016855823.1:p.Pro927Ala
XM_017000335.1:c.2773C>G	XP_016855824.1:p.Pro925Ala
XM_017000336.1:c.2779C>G	XP_016855825.1:p.Pro927Ala
XM_017000337.1:c.1177C>G	XP_016855826.1:p.Pro393Ala
NM_001854.4:c.2626C>G MANE Select	NP_001845.3:p.Pro876Ala
NM_080630.4:c.2278C>G	NP_542197.3:p.Pro760Ala
NR_134980.2:n.2986C>G
NM_001190709.2:c.2509C>G	NP_001177638.1:p.Pro837Ala
NM_080629.3:c.2662C>G	NP_542196.2:p.Pro888Ala