Canonical Allele Identifier: CA341175608

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2117561
• ClinVar RCV Id: RCV003027807
• dbSNP Id: rs1484664885
• gnomAD v2: 1-103474068-C-G
• gnomAD v3: 1-103008512-C-G
• gnomAD v4: 1-103008512-C-G
• MyVariant Identifiers: chr1:g.103474068C>G (hg19) ; chr1:g.103008512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008512C>G , CM000663.2:g.103008512C>G	GRCh38
NC_000001.10:g.103474068C>G , CM000663.1:g.103474068C>G	GRCh37
NC_000001.9:g.103246656C>G	NCBI36
NG_008033.1:g.104985G>C
NG_008033.2:g.104985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1634G>C MANE Select	ENSP00000359114.3:p.Gly545Ala
ENST00000461720.6:c.1787G>C	ENSP00000494909.1:p.Gly596Ala
ENST00000644186.1:c.1634G>C	ENSP00000493821.1:p.Gly545Ala
ENST00000645458.1:c.1634G>C	ENSP00000494179.1:p.Gly545Ala
ENST00000647280.1:c.1634G>C	ENSP00000494583.1:p.Gly545Ala
ENST00000353414.8:c.1517G>C	ENSP00000302551.6:p.Gly506Ala
ENST00000358392.6:c.1670G>C	ENSP00000351163.2:p.Gly557Ala
ENST00000370096.7:c.1634G>C	ENSP00000359114.3:p.Gly545Ala
ENST00000427239.5:c.1670G>C	ENSP00000408640.1:p.Gly557Ala
ENST00000512756.5:c.1286G>C	ENSP00000426533.1:p.Gly429Ala
ENST00000635193.1:c.952G>C
NM_001190709.1:c.1517G>C	NP_001177638.1:p.Gly506Ala
NM_001854.3:c.1634G>C	NP_001845.3:p.Gly545Ala
NM_080629.2:c.1670G>C	NP_542196.2:p.Gly557Ala
NM_080630.3:c.1286G>C	NP_542197.3:p.Gly429Ala
XM_011540719.1:c.1634G>C	XP_011539021.1:p.Gly545Ala
XM_011540720.1:c.-85+164G>C	XP_011539022.1:n.-85+164G>C
XM_011540721.1:c.-795G>C	XP_011539023.1:n.-795G>C
XR_946545.1:n.2032G>C
NR_134980.1:n.1952G>C
XM_017000334.1:c.1787G>C	XP_016855823.1:p.Gly596Ala
XM_017000335.1:c.1781G>C	XP_016855824.1:p.Gly594Ala
XM_017000336.1:c.1787G>C	XP_016855825.1:p.Gly596Ala
XM_017000337.1:c.185G>C	XP_016855826.1:p.Gly62Ala
NM_001854.4:c.1634G>C MANE Select	NP_001845.3:p.Gly545Ala
NM_080630.4:c.1286G>C	NP_542197.3:p.Gly429Ala
NR_134980.2:n.1978G>C
NM_001190709.2:c.1517G>C	NP_001177638.1:p.Gly506Ala
NM_080629.3:c.1670G>C	NP_542196.2:p.Gly557Ala