Canonical Allele Identifier: CA419207873

Gene: COL11A1

Linked Data

• gnomAD v4: 1-103008499-A-T
• MyVariant Identifiers: chr1:g.103474055A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008499A>T , CM000663.2:g.103008499A>T	GRCh38
NC_000001.10:g.103474055A>T , CM000663.1:g.103474055A>T	GRCh37
NC_000001.9:g.103246643A>T	NCBI36
NG_008033.1:g.104998T>A
NG_008033.2:g.104998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1647T>A MANE Select	ENSP00000359114.3:p.Ser549=
ENST00000461720.6:c.1800T>A	ENSP00000494909.1:p.Ser600=
ENST00000644186.1:c.1647T>A	ENSP00000493821.1:p.Ser549=
ENST00000645458.1:c.1647T>A	ENSP00000494179.1:p.Ser549=
ENST00000647280.1:c.1647T>A	ENSP00000494583.1:p.Ser549=
ENST00000353414.8:c.1530T>A	ENSP00000302551.6:p.Ser510=
ENST00000358392.6:c.1683T>A	ENSP00000351163.2:p.Ser561=
ENST00000370096.7:c.1647T>A	ENSP00000359114.3:p.Ser549=
ENST00000427239.5:c.1683T>A	ENSP00000408640.1:p.Ser561=
ENST00000512756.5:c.1299T>A	ENSP00000426533.1:p.Ser433=
ENST00000635193.1:c.965T>A
NM_001190709.1:c.1530T>A	NP_001177638.1:p.Ser510=
NM_001854.3:c.1647T>A	NP_001845.3:p.Ser549=
NM_080629.2:c.1683T>A	NP_542196.2:p.Ser561=
NM_080630.3:c.1299T>A	NP_542197.3:p.Ser433=
XM_011540719.1:c.1647T>A	XP_011539021.1:p.Ser549=
XM_011540720.1:c.-85+177T>A	XP_011539022.1:n.-85+177T>A
XM_011540721.1:c.-782T>A	XP_011539023.1:n.-782T>A
XR_946545.1:n.2045T>A
NR_134980.1:n.1965T>A
XM_017000334.1:c.1800T>A	XP_016855823.1:p.Ser600=
XM_017000335.1:c.1794T>A	XP_016855824.1:p.Ser598=
XM_017000336.1:c.1800T>A	XP_016855825.1:p.Ser600=
XM_017000337.1:c.198T>A	XP_016855826.1:p.Ser66=
NM_001854.4:c.1647T>A MANE Select	NP_001845.3:p.Ser549=
NM_080630.4:c.1299T>A	NP_542197.3:p.Ser433=
NR_134980.2:n.1991T>A
NM_001190709.2:c.1530T>A	NP_001177638.1:p.Ser510=
NM_080629.3:c.1683T>A	NP_542196.2:p.Ser561=