Canonical Allele Identifier: CA341162971

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444293C>G (hg19) ; chr1:g.102978737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978737C>G , CM000663.2:g.102978737C>G	GRCh38
NC_000001.10:g.103444293C>G , CM000663.1:g.103444293C>G	GRCh37
NC_000001.9:g.103216881C>G	NCBI36
NG_008033.1:g.134760G>C
NG_008033.2:g.134760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2725G>C MANE Select	ENSP00000359114.3:p.Asp909His
ENST00000353414.8:c.2608G>C	ENSP00000302551.6:p.Asp870His
ENST00000358392.6:c.2761G>C	ENSP00000351163.2:p.Asp921His
ENST00000370096.7:c.2725G>C	ENSP00000359114.3:p.Asp909His
ENST00000512756.5:c.2377G>C	ENSP00000426533.1:p.Asp793His
ENST00000635193.1:c.2059G>C
NM_001190709.1:c.2608G>C	NP_001177638.1:p.Asp870His
NM_001854.3:c.2725G>C	NP_001845.3:p.Asp909His
NM_080629.2:c.2761G>C	NP_542196.2:p.Asp921His
NM_080630.3:c.2377G>C	NP_542197.3:p.Asp793His
XM_011540719.1:c.2725G>C	XP_011539021.1:p.Asp909His
XM_011540720.1:c.958G>C	XP_011539022.1:p.Asp320His
XM_011540721.1:c.313G>C	XP_011539023.1:p.Asp105His
XR_946545.1:n.3139G>C
NR_134980.1:n.3059G>C
XM_017000334.1:c.2878G>C	XP_016855823.1:p.Asp960His
XM_017000335.1:c.2872G>C	XP_016855824.1:p.Asp958His
XM_017000336.1:c.2878G>C	XP_016855825.1:p.Asp960His
XM_017000337.1:c.1276G>C	XP_016855826.1:p.Asp426His
NM_001854.4:c.2725G>C MANE Select	NP_001845.3:p.Asp909His
NM_080630.4:c.2377G>C	NP_542197.3:p.Asp793His
NR_134980.2:n.3085G>C
NM_001190709.2:c.2608G>C	NP_001177638.1:p.Asp870His
NM_080629.3:c.2761G>C	NP_542196.2:p.Asp921His