Canonical Allele Identifier: CA419205349

Gene: COL11A1

Linked Data

• dbSNP Id: rs1283240056
• gnomAD v2: 1-103412405-A-G
• gnomAD v4: 1-102946849-A-G
• MyVariant Identifiers: chr1:g.103412405A>G (hg19) ; chr1:g.102946849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946849A>G , CM000663.2:g.102946849A>G	GRCh38
NC_000001.10:g.103412405A>G , CM000663.1:g.103412405A>G	GRCh37
NC_000001.9:g.103184993A>G	NCBI36
NG_008033.1:g.166648T>C
NG_008033.2:g.166648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3276T>C MANE Select	ENSP00000359114.3:p.Pro1092=
ENST00000353414.8:c.3159T>C	ENSP00000302551.6:p.Pro1053=
ENST00000358392.6:c.3312T>C	ENSP00000351163.2:p.Pro1104=
ENST00000370096.7:c.3276T>C	ENSP00000359114.3:p.Pro1092=
ENST00000512756.5:c.2928T>C	ENSP00000426533.1:p.Pro976=
ENST00000635193.1:c.2610T>C
NM_001190709.1:c.3159T>C	NP_001177638.1:p.Pro1053=
NM_001854.3:c.3276T>C	NP_001845.3:p.Pro1092=
NM_080629.2:c.3312T>C	NP_542196.2:p.Pro1104=
NM_080630.3:c.2928T>C	NP_542197.3:p.Pro976=
XM_011540719.1:c.3276T>C	XP_011539021.1:p.Pro1092=
XM_011540720.1:c.1509T>C	XP_011539022.1:p.Pro503=
XM_011540721.1:c.864T>C	XP_011539023.1:p.Pro288=
NR_134980.1:n.3610T>C
XM_017000334.1:c.3429T>C	XP_016855823.1:p.Pro1143=
XM_017000335.1:c.3423T>C	XP_016855824.1:p.Pro1141=
XM_017000336.1:c.3429T>C	XP_016855825.1:p.Pro1143=
XM_017000337.1:c.1827T>C	XP_016855826.1:p.Pro609=
NM_001854.4:c.3276T>C MANE Select	NP_001845.3:p.Pro1092=
NM_080630.4:c.2928T>C	NP_542197.3:p.Pro976=
NR_134980.2:n.3636T>C
NM_001190709.2:c.3159T>C	NP_001177638.1:p.Pro1053=
NM_080629.3:c.3312T>C	NP_542196.2:p.Pro1104=