Canonical Allele Identifier: CA374599245

Gene: COL27A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114195977G>A , CM000671.2:g.114195977G>A	GRCh38
NC_000009.11:g.116958257G>A , CM000671.1:g.116958257G>A	GRCh37
NC_000009.10:g.115998078G>A	NCBI36
NG_034260.1:g.45433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356083.8:c.2089G>A MANE Select	ENSP00000348385.3:p.Gly697Arg
ENST00000356083.7:c.2089G>A	ENSP00000348385.3:p.Gly697Arg
ENST00000451716.5:c.1876G>A	ENSP00000391328.1:p.Gly626Arg
ENST00000494090.6:c.983G>A
NM_032888.3:c.2089G>A	NP_116277.2:p.Gly697Arg
XM_006717308.2:c.2035G>A	XP_006717371.1:p.Gly679Arg
XM_011519138.1:c.2083G>A	XP_011517440.1:p.Gly695Arg
XM_011519139.1:c.2065G>A	XP_011517441.1:p.Gly689Arg
XM_011519140.1:c.2089G>A	XP_011517442.1:p.Gly697Arg
XM_011519141.1:c.2089G>A	XP_011517443.1:p.Gly697Arg
XM_011519142.1:c.2089G>A	XP_011517444.1:p.Gly697Arg
XM_011519143.1:c.2089G>A	XP_011517445.1:p.Gly697Arg
XM_011519144.1:c.2089G>A	XP_011517446.1:p.Gly697Arg
XR_929860.1:n.2565G>A
XR_929861.1:n.2566G>A
XR_929862.1:n.2567G>A
XR_929863.1:n.2567G>A
XM_006717310.3:c.-219G>A	XP_006717373.1:n.-219G>A
XM_011519138.2:c.2083G>A	XP_011517440.1:p.Gly695Arg
XM_011519142.3:c.2089G>A	XP_011517444.1:p.Gly697Arg
XM_011519143.2:c.2089G>A	XP_011517445.1:p.Gly697Arg
XM_011519144.2:c.2089G>A	XP_011517446.1:p.Gly697Arg
XM_017015239.1:c.2089G>A	XP_016870728.1:p.Gly697Arg
XR_001746405.1:n.2567G>A
XR_929860.3:n.2566G>A
XR_929861.2:n.2567G>A
NM_032888.4:c.2089G>A MANE Select	NP_116277.2:p.Gly697Arg