Canonical Allele Identifier: CA341162906

Gene: COL11A1

Linked Data

• dbSNP Id: rs766511805
• gnomAD v3: 1-102978719-G-T
• gnomAD v4: 1-102978719-G-T
• MyVariant Identifiers: chr1:g.103444275G>T (hg19) ; chr1:g.102978719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978719G>T , CM000663.2:g.102978719G>T	GRCh38
NC_000001.10:g.103444275G>T , CM000663.1:g.103444275G>T	GRCh37
NC_000001.9:g.103216863G>T	NCBI36
NG_008033.1:g.134778C>A
NG_008033.2:g.134778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2743C>A MANE Select	ENSP00000359114.3:p.Pro915Thr
ENST00000353414.8:c.2626C>A	ENSP00000302551.6:p.Pro876Thr
ENST00000358392.6:c.2779C>A	ENSP00000351163.2:p.Pro927Thr
ENST00000370096.7:c.2743C>A	ENSP00000359114.3:p.Pro915Thr
ENST00000512756.5:c.2395C>A	ENSP00000426533.1:p.Pro799Thr
ENST00000635193.1:c.2077C>A
NM_001190709.1:c.2626C>A	NP_001177638.1:p.Pro876Thr
NM_001854.3:c.2743C>A	NP_001845.3:p.Pro915Thr
NM_080629.2:c.2779C>A	NP_542196.2:p.Pro927Thr
NM_080630.3:c.2395C>A	NP_542197.3:p.Pro799Thr
XM_011540719.1:c.2743C>A	XP_011539021.1:p.Pro915Thr
XM_011540720.1:c.976C>A	XP_011539022.1:p.Pro326Thr
XM_011540721.1:c.331C>A	XP_011539023.1:p.Pro111Thr
XR_946545.1:n.3157C>A
NR_134980.1:n.3077C>A
XM_017000334.1:c.2896C>A	XP_016855823.1:p.Pro966Thr
XM_017000335.1:c.2890C>A	XP_016855824.1:p.Pro964Thr
XM_017000336.1:c.2896C>A	XP_016855825.1:p.Pro966Thr
XM_017000337.1:c.1294C>A	XP_016855826.1:p.Pro432Thr
NM_001854.4:c.2743C>A MANE Select	NP_001845.3:p.Pro915Thr
NM_080630.4:c.2395C>A	NP_542197.3:p.Pro799Thr
NR_134980.2:n.3103C>A
NM_001190709.2:c.2626C>A	NP_001177638.1:p.Pro876Thr
NM_080629.3:c.2779C>A	NP_542196.2:p.Pro927Thr