Canonical Allele Identifier: CA419198124

Gene: COL11A1

Linked Data

• dbSNP Id: rs1655104707
• MyVariant Identifiers: chr1:g.103380305T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914749T>A , CM000663.2:g.102914749T>A	GRCh38
NC_000001.10:g.103380305T>A , CM000663.1:g.103380305T>A	GRCh37
NC_000001.9:g.103152893T>A	NCBI36
NG_008033.1:g.198748A>T
NG_008033.2:g.198748A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3879A>T MANE Select	ENSP00000359114.3:p.Pro1293=
ENST00000353414.8:c.3762A>T	ENSP00000302551.6:p.Pro1254=
ENST00000358392.6:c.3915A>T	ENSP00000351163.2:p.Pro1305=
ENST00000370096.7:c.3879A>T	ENSP00000359114.3:p.Pro1293=
ENST00000512756.5:c.3531A>T	ENSP00000426533.1:p.Pro1177=
ENST00000635193.1:c.3213A>T
NM_001190709.1:c.3762A>T	NP_001177638.1:p.Pro1254=
NM_001854.3:c.3879A>T	NP_001845.3:p.Pro1293=
NM_080629.2:c.3915A>T	NP_542196.2:p.Pro1305=
NM_080630.3:c.3531A>T	NP_542197.3:p.Pro1177=
XM_011540719.1:c.3879A>T	XP_011539021.1:p.Pro1293=
XM_011540720.1:c.2112A>T	XP_011539022.1:p.Pro704=
XM_011540721.1:c.1467A>T	XP_011539023.1:p.Pro489=
NR_134980.1:n.4213A>T
XM_017000334.1:c.4032A>T	XP_016855823.1:p.Pro1344=
XM_017000335.1:c.4026A>T	XP_016855824.1:p.Pro1342=
XM_017000336.1:c.4032A>T	XP_016855825.1:p.Pro1344=
XM_017000337.1:c.2430A>T	XP_016855826.1:p.Pro810=
NM_001854.4:c.3879A>T MANE Select	NP_001845.3:p.Pro1293=
NM_080630.4:c.3531A>T	NP_542197.3:p.Pro1177=
NR_134980.2:n.4239A>T
NM_001190709.2:c.3762A>T	NP_001177638.1:p.Pro1254=
NM_080629.3:c.3915A>T	NP_542196.2:p.Pro1305=