Canonical Allele Identifier: CA5201617

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114196014T>C , CM000671.2:g.114196014T>C	GRCh38
NC_000009.11:g.116958294T>C , CM000671.1:g.116958294T>C	GRCh37
NC_000009.10:g.115998115T>C	NCBI36
NG_034260.1:g.45470T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.2124+2T>C MANE Select	NP_116277.2:n.2124+2T>C
ENST00000356083.8:c.2124+2T>C MANE Select	ENSP00000348385.3:n.2124+2T>C
NM_032888.3:c.2124+2T>C	NP_116277.2:n.2124+2T>C
ENST00000356083.7:c.2124+2T>C	ENSP00000348385.3:n.2124+2T>C
ENST00000451716.5:c.1911+2T>C	ENSP00000391328.1:n.1911+2T>C
ENST00000494090.6:c.1018+2T>C
XM_006717308.2:c.2070+2T>C	XP_006717371.1:n.2070+2T>C
XM_006717310.3:c.-184+2T>C	XP_006717373.1:n.-184+2T>C
XM_011519138.1:c.2118+2T>C	XP_011517440.1:n.2118+2T>C
XM_011519138.2:c.2118+2T>C	XP_011517440.1:n.2118+2T>C
XM_011519139.1:c.2100+2T>C	XP_011517441.1:n.2100+2T>C
XM_011519140.1:c.2124+2T>C	XP_011517442.1:n.2124+2T>C
XM_011519141.1:c.2124+2T>C	XP_011517443.1:n.2124+2T>C
XM_011519142.1:c.2124+2T>C	XP_011517444.1:n.2124+2T>C
XM_011519142.3:c.2124+2T>C	XP_011517444.1:n.2124+2T>C
XM_011519143.1:c.2124+2T>C	XP_011517445.1:n.2124+2T>C
XM_011519143.2:c.2124+2T>C	XP_011517445.1:n.2124+2T>C
XM_011519144.1:c.2124+2T>C	XP_011517446.1:n.2124+2T>C
XM_011519144.2:c.2124+2T>C	XP_011517446.1:n.2124+2T>C
XM_017015239.1:c.2124+2T>C	XP_016870728.1:n.2124+2T>C
XR_001746405.1:n.2602+2T>C
XR_929860.1:n.2600+2T>C
XR_929860.3:n.2601+2T>C
XR_929861.1:n.2601+2T>C
XR_929861.2:n.2602+2T>C
XR_929862.1:n.2602+2T>C
XR_929863.1:n.2602+2T>C