Canonical Allele Identifier: CA341162869

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444271C>A (hg19) ; chr1:g.102978715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978715C>A , CM000663.2:g.102978715C>A	GRCh38
NC_000001.10:g.103444271C>A , CM000663.1:g.103444271C>A	GRCh37
NC_000001.9:g.103216859C>A	NCBI36
NG_008033.1:g.134782G>T
NG_008033.2:g.134782G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2747G>T MANE Select	ENSP00000359114.3:p.Gly916Val
ENST00000353414.8:c.2630G>T	ENSP00000302551.6:p.Gly877Val
ENST00000358392.6:c.2783G>T	ENSP00000351163.2:p.Gly928Val
ENST00000370096.7:c.2747G>T	ENSP00000359114.3:p.Gly916Val
ENST00000512756.5:c.2399G>T	ENSP00000426533.1:p.Gly800Val
ENST00000635193.1:c.2081G>T
NM_001190709.1:c.2630G>T	NP_001177638.1:p.Gly877Val
NM_001854.3:c.2747G>T	NP_001845.3:p.Gly916Val
NM_080629.2:c.2783G>T	NP_542196.2:p.Gly928Val
NM_080630.3:c.2399G>T	NP_542197.3:p.Gly800Val
XM_011540719.1:c.2747G>T	XP_011539021.1:p.Gly916Val
XM_011540720.1:c.980G>T	XP_011539022.1:p.Gly327Val
XM_011540721.1:c.335G>T	XP_011539023.1:p.Gly112Val
XR_946545.1:n.3161G>T
NR_134980.1:n.3081G>T
XM_017000334.1:c.2900G>T	XP_016855823.1:p.Gly967Val
XM_017000335.1:c.2894G>T	XP_016855824.1:p.Gly965Val
XM_017000336.1:c.2900G>T	XP_016855825.1:p.Gly967Val
XM_017000337.1:c.1298G>T	XP_016855826.1:p.Gly433Val
NM_001854.4:c.2747G>T MANE Select	NP_001845.3:p.Gly916Val
NM_080630.4:c.2399G>T	NP_542197.3:p.Gly800Val
NR_134980.2:n.3107G>T
NM_001190709.2:c.2630G>T	NP_001177638.1:p.Gly877Val
NM_080629.3:c.2783G>T	NP_542196.2:p.Gly928Val