Canonical Allele Identifier: CA374599299

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114196007C>T , CM000671.2:g.114196007C>T	GRCh38
NC_000009.11:g.116958287C>T , CM000671.1:g.116958287C>T	GRCh37
NC_000009.10:g.115998108C>T	NCBI36
NG_034260.1:g.45463C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.2119C>T MANE Select	NP_116277.2:p.Arg707Ter
ENST00000356083.8:c.2119C>T MANE Select	ENSP00000348385.3:p.Arg707Ter
NM_032888.3:c.2119C>T	NP_116277.2:p.Arg707Ter
ENST00000356083.7:c.2119C>T	ENSP00000348385.3:p.Arg707Ter
ENST00000451716.5:c.1906C>T	ENSP00000391328.1:p.Arg636Ter
ENST00000494090.6:c.1013C>T
XM_006717308.2:c.2065C>T	XP_006717371.1:p.Arg689Ter
XM_006717310.3:c.-189C>T	XP_006717373.1:n.-189C>T
XM_011519138.1:c.2113C>T	XP_011517440.1:p.Arg705Ter
XM_011519138.2:c.2113C>T	XP_011517440.1:p.Arg705Ter
XM_011519139.1:c.2095C>T	XP_011517441.1:p.Arg699Ter
XM_011519140.1:c.2119C>T	XP_011517442.1:p.Arg707Ter
XM_011519141.1:c.2119C>T	XP_011517443.1:p.Arg707Ter
XM_011519142.1:c.2119C>T	XP_011517444.1:p.Arg707Ter
XM_011519142.3:c.2119C>T	XP_011517444.1:p.Arg707Ter
XM_011519143.1:c.2119C>T	XP_011517445.1:p.Arg707Ter
XM_011519143.2:c.2119C>T	XP_011517445.1:p.Arg707Ter
XM_011519144.1:c.2119C>T	XP_011517446.1:p.Arg707Ter
XM_011519144.2:c.2119C>T	XP_011517446.1:p.Arg707Ter
XM_017015239.1:c.2119C>T	XP_016870728.1:p.Arg707Ter
XR_001746405.1:n.2597C>T
XR_929860.1:n.2595C>T
XR_929860.3:n.2596C>T
XR_929861.1:n.2596C>T
XR_929861.2:n.2597C>T
XR_929862.1:n.2597C>T
XR_929863.1:n.2597C>T