Canonical Allele Identifier: CA341167166

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102989563-A-T
• MyVariant Identifiers: chr1:g.103455119A>T (hg19) ; chr1:g.102989563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989563A>T , CM000663.2:g.102989563A>T	GRCh38
NC_000001.10:g.103455119A>T , CM000663.1:g.103455119A>T	GRCh37
NC_000001.9:g.103227707A>T	NCBI36
NG_008033.1:g.123934T>A
NG_008033.2:g.123934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2349T>A MANE Select	ENSP00000359114.3:p.Asp783Glu
ENST00000353414.8:c.2232T>A	ENSP00000302551.6:p.Asp744Glu
ENST00000358392.6:c.2385T>A	ENSP00000351163.2:p.Asp795Glu
ENST00000370096.7:c.2349T>A	ENSP00000359114.3:p.Asp783Glu
ENST00000512756.5:c.2001T>A	ENSP00000426533.1:p.Asp667Glu
ENST00000635193.1:c.1667T>A
NM_001190709.1:c.2232T>A	NP_001177638.1:p.Asp744Glu
NM_001854.3:c.2349T>A	NP_001845.3:p.Asp783Glu
NM_080629.2:c.2385T>A	NP_542196.2:p.Asp795Glu
NM_080630.3:c.2001T>A	NP_542197.3:p.Asp667Glu
XM_011540719.1:c.2349T>A	XP_011539021.1:p.Asp783Glu
XM_011540720.1:c.582T>A	XP_011539022.1:p.Asp194Glu
XM_011540721.1:c.-80T>A	XP_011539023.1:n.-80T>A
XR_946545.1:n.2747T>A
NR_134980.1:n.2667T>A
XM_017000334.1:c.2502T>A	XP_016855823.1:p.Asp834Glu
XM_017000335.1:c.2496T>A	XP_016855824.1:p.Asp832Glu
XM_017000336.1:c.2502T>A	XP_016855825.1:p.Asp834Glu
XM_017000337.1:c.900T>A	XP_016855826.1:p.Asp300Glu
NM_001854.4:c.2349T>A MANE Select	NP_001845.3:p.Asp783Glu
NM_080630.4:c.2001T>A	NP_542197.3:p.Asp667Glu
NR_134980.2:n.2693T>A
NM_001190709.2:c.2232T>A	NP_001177638.1:p.Asp744Glu
NM_080629.3:c.2385T>A	NP_542196.2:p.Asp795Glu