Canonical Allele Identifier: CA974295

Gene: COL11A1

Linked Data

• dbSNP Id: rs766511805
• ExAC: 1:103444275 G / C
• gnomAD v2: 1-103444275-G-C
• gnomAD v4: 1-102978719-G-C
• MyVariant Identifiers: chr1:g.103444275G>C (hg19) ; chr1:g.102978719G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2743C>G MANE Select	ENSP00000359114.3:p.Pro915Ala
ENST00000353414.8:c.2626C>G	ENSP00000302551.6:p.Pro876Ala
ENST00000358392.6:c.2779C>G	ENSP00000351163.2:p.Pro927Ala
ENST00000370096.7:c.2743C>G	ENSP00000359114.3:p.Pro915Ala
ENST00000512756.5:c.2395C>G	ENSP00000426533.1:p.Pro799Ala
ENST00000635193.1:c.2077C>G
NM_001190709.1:c.2626C>G	NP_001177638.1:p.Pro876Ala
NM_001854.3:c.2743C>G	NP_001845.3:p.Pro915Ala
NM_080629.2:c.2779C>G	NP_542196.2:p.Pro927Ala
NM_080630.3:c.2395C>G	NP_542197.3:p.Pro799Ala
XM_011540719.1:c.2743C>G	XP_011539021.1:p.Pro915Ala
XM_011540720.1:c.976C>G	XP_011539022.1:p.Pro326Ala
XM_011540721.1:c.331C>G	XP_011539023.1:p.Pro111Ala
XR_946545.1:n.3157C>G
NR_134980.1:n.3077C>G
XM_017000334.1:c.2896C>G	XP_016855823.1:p.Pro966Ala
XM_017000335.1:c.2890C>G	XP_016855824.1:p.Pro964Ala
XM_017000336.1:c.2896C>G	XP_016855825.1:p.Pro966Ala
XM_017000337.1:c.1294C>G	XP_016855826.1:p.Pro432Ala
NM_001854.4:c.2743C>G MANE Select	NP_001845.3:p.Pro915Ala
NM_080630.4:c.2395C>G	NP_542197.3:p.Pro799Ala
NR_134980.2:n.3103C>G
NM_001190709.2:c.2626C>G	NP_001177638.1:p.Pro876Ala
NM_080629.3:c.2779C>G	NP_542196.2:p.Pro927Ala