Canonical Allele Identifier: CA341163399

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444457A>G (hg19) ; chr1:g.102978901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978901A>G , CM000663.2:g.102978901A>G	GRCh38
NC_000001.10:g.103444457A>G , CM000663.1:g.103444457A>G	GRCh37
NC_000001.9:g.103217045A>G	NCBI36
NG_008033.1:g.134596T>C
NG_008033.2:g.134596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2668T>C MANE Select	ENSP00000359114.3:p.Ser890Pro
ENST00000353414.8:c.2551T>C	ENSP00000302551.6:p.Ser851Pro
ENST00000358392.6:c.2704T>C	ENSP00000351163.2:p.Ser902Pro
ENST00000370096.7:c.2668T>C	ENSP00000359114.3:p.Ser890Pro
ENST00000512756.5:c.2320T>C	ENSP00000426533.1:p.Ser774Pro
ENST00000635193.1:c.2002T>C
NM_001190709.1:c.2551T>C	NP_001177638.1:p.Ser851Pro
NM_001854.3:c.2668T>C	NP_001845.3:p.Ser890Pro
NM_080629.2:c.2704T>C	NP_542196.2:p.Ser902Pro
NM_080630.3:c.2320T>C	NP_542197.3:p.Ser774Pro
XM_011540719.1:c.2668T>C	XP_011539021.1:p.Ser890Pro
XM_011540720.1:c.901T>C	XP_011539022.1:p.Ser301Pro
XM_011540721.1:c.256T>C	XP_011539023.1:p.Ser86Pro
XR_946545.1:n.3082T>C
NR_134980.1:n.3002T>C
XM_017000334.1:c.2821T>C	XP_016855823.1:p.Ser941Pro
XM_017000335.1:c.2815T>C	XP_016855824.1:p.Ser939Pro
XM_017000336.1:c.2821T>C	XP_016855825.1:p.Ser941Pro
XM_017000337.1:c.1219T>C	XP_016855826.1:p.Ser407Pro
NM_001854.4:c.2668T>C MANE Select	NP_001845.3:p.Ser890Pro
NM_080630.4:c.2320T>C	NP_542197.3:p.Ser774Pro
NR_134980.2:n.3028T>C
NM_001190709.2:c.2551T>C	NP_001177638.1:p.Ser851Pro
NM_080629.3:c.2704T>C	NP_542196.2:p.Ser902Pro