Canonical Allele Identifier: CA419199922

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444285A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978729A>G , CM000663.2:g.102978729A>G	GRCh38
NC_000001.10:g.103444285A>G , CM000663.1:g.103444285A>G	GRCh37
NC_000001.9:g.103216873A>G	NCBI36
NG_008033.1:g.134768T>C
NG_008033.2:g.134768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2733T>C MANE Select	ENSP00000359114.3:p.Pro911=
ENST00000353414.8:c.2616T>C	ENSP00000302551.6:p.Pro872=
ENST00000358392.6:c.2769T>C	ENSP00000351163.2:p.Pro923=
ENST00000370096.7:c.2733T>C	ENSP00000359114.3:p.Pro911=
ENST00000512756.5:c.2385T>C	ENSP00000426533.1:p.Pro795=
ENST00000635193.1:c.2067T>C
NM_001190709.1:c.2616T>C	NP_001177638.1:p.Pro872=
NM_001854.3:c.2733T>C	NP_001845.3:p.Pro911=
NM_080629.2:c.2769T>C	NP_542196.2:p.Pro923=
NM_080630.3:c.2385T>C	NP_542197.3:p.Pro795=
XM_011540719.1:c.2733T>C	XP_011539021.1:p.Pro911=
XM_011540720.1:c.966T>C	XP_011539022.1:p.Pro322=
XM_011540721.1:c.321T>C	XP_011539023.1:p.Pro107=
XR_946545.1:n.3147T>C
NR_134980.1:n.3067T>C
XM_017000334.1:c.2886T>C	XP_016855823.1:p.Pro962=
XM_017000335.1:c.2880T>C	XP_016855824.1:p.Pro960=
XM_017000336.1:c.2886T>C	XP_016855825.1:p.Pro962=
XM_017000337.1:c.1284T>C	XP_016855826.1:p.Pro428=
NM_001854.4:c.2733T>C MANE Select	NP_001845.3:p.Pro911=
NM_080630.4:c.2385T>C	NP_542197.3:p.Pro795=
NR_134980.2:n.3093T>C
NM_001190709.2:c.2616T>C	NP_001177638.1:p.Pro872=
NM_080629.3:c.2769T>C	NP_542196.2:p.Pro923=