Canonical Allele Identifier: CA5202767

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114288735C>A , CM000671.2:g.114288735C>A	GRCh38
NC_000009.11:g.117051015C>A , CM000671.1:g.117051015C>A	GRCh37
NC_000009.10:g.116090836C>A	NCBI36
NG_034260.1:g.138191C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.4078C>A MANE Select	NP_116277.2:p.Pro1360Thr
ENST00000356083.8:c.4078C>A MANE Select	ENSP00000348385.3:p.Pro1360Thr
NM_032888.3:c.4078C>A	NP_116277.2:p.Pro1360Thr
ENST00000356083.7:c.4078C>A	ENSP00000348385.3:p.Pro1360Thr
ENST00000494090.6:c.2971C>A
XM_006717308.2:c.4024C>A	XP_006717371.1:p.Pro1342Thr
XM_006717310.2:c.1759C>A	XP_006717373.1:p.Pro587Thr
XM_006717310.3:c.1759C>A	XP_006717373.1:p.Pro587Thr
XM_011519138.1:c.4072C>A	XP_011517440.1:p.Pro1358Thr
XM_011519138.2:c.4072C>A	XP_011517440.1:p.Pro1358Thr
XM_011519139.1:c.4054C>A	XP_011517441.1:p.Pro1352Thr
XM_011519140.1:c.4024C>A	XP_011517442.1:p.Pro1342Thr
XM_011519141.1:c.4078C>A	XP_011517443.1:p.Pro1360Thr
XM_011519145.1:c.1645C>A	XP_011517447.1:p.Pro549Thr
XM_011519145.3:c.1645C>A	XP_011517447.1:p.Pro549Thr
XR_001746405.1:n.4556C>A
XR_929860.1:n.4554C>A
XR_929860.3:n.4555C>A
XR_929861.1:n.4555C>A
XR_929861.2:n.4556C>A