Canonical Allele Identifier: CA203185

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 198019
• ClinVar RCV Id: RCV000179220 ; RCV000318353 ; RCV000385330 ; RCV000659326 ; RCV000963059
• dbSNP Id: rs55821405
• ExAC: 1:103355059 G / T
• gnomAD v2: 1-103355059-G-T
• gnomAD v3: 1-102889503-G-T
• gnomAD v4: 1-102889503-G-T
• COSMIC: COSM1559246 ; COSM1559247
• MyVariant Identifiers: chr1:g.103355059G>T (hg19) ; chr1:g.102889503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102889503G>T , CM000663.2:g.102889503G>T	GRCh38
NC_000001.10:g.103355059G>T , CM000663.1:g.103355059G>T	GRCh37
NC_000001.9:g.103127647G>T	NCBI36
NG_008033.1:g.223994C>A
NG_008033.2:g.223994C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.4416C>A MANE Select	ENSP00000359114.3:p.Asp1472Glu
ENST00000353414.8:c.4299C>A	ENSP00000302551.6:p.Asp1433Glu
ENST00000358392.6:c.4452C>A	ENSP00000351163.2:p.Asp1484Glu
ENST00000370096.7:c.4416C>A	ENSP00000359114.3:p.Asp1472Glu
ENST00000512756.5:c.4068C>A	ENSP00000426533.1:p.Asp1356Glu
ENST00000635193.1:c.3750C>A
NM_001190709.1:c.4299C>A	NP_001177638.1:p.Asp1433Glu
NM_001854.3:c.4416C>A	NP_001845.3:p.Asp1472Glu
NM_080629.2:c.4452C>A	NP_542196.2:p.Asp1484Glu
NM_080630.3:c.4068C>A	NP_542197.3:p.Asp1356Glu
XM_011540720.1:c.2649C>A	XP_011539022.1:p.Asp883Glu
XM_011540721.1:c.2004C>A	XP_011539023.1:p.Asp668Glu
NR_134980.1:n.4750C>A
XM_017000334.1:c.4569C>A	XP_016855823.1:p.Asp1523Glu
XM_017000335.1:c.4563C>A	XP_016855824.1:p.Asp1521Glu
XM_017000337.1:c.2967C>A	XP_016855826.1:p.Asp989Glu
NM_001854.4:c.4416C>A MANE Select	NP_001845.3:p.Asp1472Glu
NM_080630.4:c.4068C>A	NP_542197.3:p.Asp1356Glu
NR_134980.2:n.4776C>A
NM_001190709.2:c.4299C>A	NP_001177638.1:p.Asp1433Glu
NM_080629.3:c.4452C>A	NP_542196.2:p.Asp1484Glu