Canonical Allele Identifier: CA374596334

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114264969G>C , CM000671.2:g.114264969G>C	GRCh38
NC_000009.11:g.117027249G>C , CM000671.1:g.117027249G>C	GRCh37
NC_000009.10:g.116067070G>C	NCBI36
NG_034260.1:g.114425G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.3294+1G>C MANE Select	NP_116277.2:n.3294+1G>C
ENST00000356083.8:c.3294+1G>C MANE Select	ENSP00000348385.3:n.3294+1G>C
NM_032888.3:c.3294+1G>C	NP_116277.2:n.3294+1G>C
ENST00000356083.7:c.3294+1G>C	ENSP00000348385.3:n.3294+1G>C
ENST00000494090.6:c.2187+1G>C
XM_006717308.2:c.3240+1G>C	XP_006717371.1:n.3240+1G>C
XM_006717310.2:c.975+1G>C	XP_006717373.1:n.975+1G>C
XM_006717310.3:c.975+1G>C	XP_006717373.1:n.975+1G>C
XM_011519138.1:c.3288+1G>C	XP_011517440.1:n.3288+1G>C
XM_011519138.2:c.3288+1G>C	XP_011517440.1:n.3288+1G>C
XM_011519139.1:c.3270+1G>C	XP_011517441.1:n.3270+1G>C
XM_011519140.1:c.3240+1G>C	XP_011517442.1:n.3240+1G>C
XM_011519141.1:c.3294+1G>C	XP_011517443.1:n.3294+1G>C
XM_011519142.1:c.3294+1G>C	XP_011517444.1:n.3294+1G>C
XM_011519142.3:c.3294+1G>C	XP_011517444.1:n.3294+1G>C
XM_011519143.1:c.3294+1G>C	XP_011517445.1:n.3294+1G>C
XM_011519143.2:c.3294+1G>C	XP_011517445.1:n.3294+1G>C
XM_011519144.1:c.3294+1G>C	XP_011517446.1:n.3294+1G>C
XM_011519144.2:c.3294+1G>C	XP_011517446.1:n.3294+1G>C
XM_011519145.1:c.861+1G>C	XP_011517447.1:n.861+1G>C
XM_011519145.3:c.861+1G>C	XP_011517447.1:n.861+1G>C
XM_017015239.1:c.3294+1G>C	XP_016870728.1:n.3294+1G>C
XR_001746405.1:n.3772+1G>C
XR_929860.1:n.3770+1G>C
XR_929860.3:n.3771+1G>C
XR_929861.1:n.3771+1G>C
XR_929861.2:n.3772+1G>C
XR_929862.1:n.3779+1G>C
XR_929863.1:n.3725+1G>C