Canonical Allele Identifier: CA374590184

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114292145C>T , CM000671.2:g.114292145C>T	GRCh38
NC_000009.11:g.117054425C>T , CM000671.1:g.117054425C>T	GRCh37
NC_000009.10:g.116094246C>T	NCBI36
NG_034260.1:g.141601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.4519C>T MANE Select	NP_116277.2:p.Arg1507Ter
ENST00000356083.8:c.4519C>T MANE Select	ENSP00000348385.3:p.Arg1507Ter
NM_032888.3:c.4519C>T	NP_116277.2:p.Arg1507Ter
ENST00000356083.7:c.4519C>T	ENSP00000348385.3:p.Arg1507Ter
ENST00000494090.6:c.3412C>T
XM_006717308.2:c.4465C>T	XP_006717371.1:p.Arg1489Ter
XM_006717310.2:c.2200C>T	XP_006717373.1:p.Arg734Ter
XM_006717310.3:c.2200C>T	XP_006717373.1:p.Arg734Ter
XM_011519138.1:c.4513C>T	XP_011517440.1:p.Arg1505Ter
XM_011519138.2:c.4513C>T	XP_011517440.1:p.Arg1505Ter
XM_011519139.1:c.4495C>T	XP_011517441.1:p.Arg1499Ter
XM_011519140.1:c.4465C>T	XP_011517442.1:p.Arg1489Ter
XM_011519141.1:c.4519C>T	XP_011517443.1:p.Arg1507Ter
XM_011519145.1:c.2086C>T	XP_011517447.1:p.Arg696Ter
XM_011519145.3:c.2086C>T	XP_011517447.1:p.Arg696Ter
XR_001746405.1:n.5067C>T
XR_929860.1:n.4995C>T
XR_929860.3:n.4996C>T
XR_929861.1:n.5066C>T
XR_929861.2:n.5067C>T