Canonical Allele Identifier: CA419197267

Gene: COL11A1

Linked Data

• dbSNP Id: rs1164493925
• gnomAD v2: 1-103427425-T-C
• gnomAD v4: 1-102961869-T-C
• MyVariant Identifiers: chr1:g.103427425T>C (hg19) ; chr1:g.102961869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961869T>C , CM000663.2:g.102961869T>C	GRCh38
NC_000001.10:g.103427425T>C , CM000663.1:g.103427425T>C	GRCh37
NC_000001.9:g.103200013T>C	NCBI36
NG_008033.1:g.151628A>G
NG_008033.2:g.151628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3165A>G MANE Select	ENSP00000359114.3:p.Pro1055=
ENST00000353414.8:c.3048A>G	ENSP00000302551.6:p.Pro1016=
ENST00000358392.6:c.3201A>G	ENSP00000351163.2:p.Pro1067=
ENST00000370096.7:c.3165A>G	ENSP00000359114.3:p.Pro1055=
ENST00000465209.1:n.173A>G
ENST00000512756.5:c.2817A>G	ENSP00000426533.1:p.Pro939=
ENST00000635193.1:c.2499A>G
NM_001190709.1:c.3048A>G	NP_001177638.1:p.Pro1016=
NM_001854.3:c.3165A>G	NP_001845.3:p.Pro1055=
NM_080629.2:c.3201A>G	NP_542196.2:p.Pro1067=
NM_080630.3:c.2817A>G	NP_542197.3:p.Pro939=
XM_011540719.1:c.3165A>G	XP_011539021.1:p.Pro1055=
XM_011540720.1:c.1398A>G	XP_011539022.1:p.Pro466=
XM_011540721.1:c.753A>G	XP_011539023.1:p.Pro251=
NR_134980.1:n.3499A>G
XM_017000334.1:c.3318A>G	XP_016855823.1:p.Pro1106=
XM_017000335.1:c.3312A>G	XP_016855824.1:p.Pro1104=
XM_017000336.1:c.3318A>G	XP_016855825.1:p.Pro1106=
XM_017000337.1:c.1716A>G	XP_016855826.1:p.Pro572=
NM_001854.4:c.3165A>G MANE Select	NP_001845.3:p.Pro1055=
NM_080630.4:c.2817A>G	NP_542197.3:p.Pro939=
NR_134980.2:n.3525A>G
NM_001190709.2:c.3048A>G	NP_001177638.1:p.Pro1016=
NM_080629.3:c.3201A>G	NP_542196.2:p.Pro1067=