Canonical Allele Identifier: CA341167187

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103455124C>A (hg19) ; chr1:g.102989568C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989568C>A , CM000663.2:g.102989568C>A	GRCh38
NC_000001.10:g.103455124C>A , CM000663.1:g.103455124C>A	GRCh37
NC_000001.9:g.103227712C>A	NCBI36
NG_008033.1:g.123929G>T
NG_008033.2:g.123929G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2344G>T MANE Select	ENSP00000359114.3:p.Glu782Ter
ENST00000353414.8:c.2227G>T	ENSP00000302551.6:p.Glu743Ter
ENST00000358392.6:c.2380G>T	ENSP00000351163.2:p.Glu794Ter
ENST00000370096.7:c.2344G>T	ENSP00000359114.3:p.Glu782Ter
ENST00000512756.5:c.1996G>T	ENSP00000426533.1:p.Glu666Ter
ENST00000635193.1:c.1662G>T
NM_001190709.1:c.2227G>T	NP_001177638.1:p.Glu743Ter
NM_001854.3:c.2344G>T	NP_001845.3:p.Glu782Ter
NM_080629.2:c.2380G>T	NP_542196.2:p.Glu794Ter
NM_080630.3:c.1996G>T	NP_542197.3:p.Glu666Ter
XM_011540719.1:c.2344G>T	XP_011539021.1:p.Glu782Ter
XM_011540720.1:c.577G>T	XP_011539022.1:p.Glu193Ter
XM_011540721.1:c.-85G>T	XP_011539023.1:n.-85G>T
XR_946545.1:n.2742G>T
NR_134980.1:n.2662G>T
XM_017000334.1:c.2497G>T	XP_016855823.1:p.Glu833Ter
XM_017000335.1:c.2491G>T	XP_016855824.1:p.Glu831Ter
XM_017000336.1:c.2497G>T	XP_016855825.1:p.Glu833Ter
XM_017000337.1:c.895G>T	XP_016855826.1:p.Glu299Ter
NM_001854.4:c.2344G>T MANE Select	NP_001845.3:p.Glu782Ter
NM_080630.4:c.1996G>T	NP_542197.3:p.Glu666Ter
NR_134980.2:n.2688G>T
NM_001190709.2:c.2227G>T	NP_001177638.1:p.Glu743Ter
NM_080629.3:c.2380G>T	NP_542196.2:p.Glu794Ter