Canonical Allele Identifier: CA341163033

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444299C>T (hg19) ; chr1:g.102978743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978743C>T , CM000663.2:g.102978743C>T	GRCh38
NC_000001.10:g.103444299C>T , CM000663.1:g.103444299C>T	GRCh37
NC_000001.9:g.103216887C>T	NCBI36
NG_008033.1:g.134754G>A
NG_008033.2:g.134754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2719G>A MANE Select	ENSP00000359114.3:p.Gly907Ser
ENST00000353414.8:c.2602G>A	ENSP00000302551.6:p.Gly868Ser
ENST00000358392.6:c.2755G>A	ENSP00000351163.2:p.Gly919Ser
ENST00000370096.7:c.2719G>A	ENSP00000359114.3:p.Gly907Ser
ENST00000512756.5:c.2371G>A	ENSP00000426533.1:p.Gly791Ser
ENST00000635193.1:c.2053G>A
NM_001190709.1:c.2602G>A	NP_001177638.1:p.Gly868Ser
NM_001854.3:c.2719G>A	NP_001845.3:p.Gly907Ser
NM_080629.2:c.2755G>A	NP_542196.2:p.Gly919Ser
NM_080630.3:c.2371G>A	NP_542197.3:p.Gly791Ser
XM_011540719.1:c.2719G>A	XP_011539021.1:p.Gly907Ser
XM_011540720.1:c.952G>A	XP_011539022.1:p.Gly318Ser
XM_011540721.1:c.307G>A	XP_011539023.1:p.Gly103Ser
XR_946545.1:n.3133G>A
NR_134980.1:n.3053G>A
XM_017000334.1:c.2872G>A	XP_016855823.1:p.Gly958Ser
XM_017000335.1:c.2866G>A	XP_016855824.1:p.Gly956Ser
XM_017000336.1:c.2872G>A	XP_016855825.1:p.Gly958Ser
XM_017000337.1:c.1270G>A	XP_016855826.1:p.Gly424Ser
NM_001854.4:c.2719G>A MANE Select	NP_001845.3:p.Gly907Ser
NM_080630.4:c.2371G>A	NP_542197.3:p.Gly791Ser
NR_134980.2:n.3079G>A
NM_001190709.2:c.2602G>A	NP_001177638.1:p.Gly868Ser
NM_080629.3:c.2755G>A	NP_542196.2:p.Gly919Ser