Canonical Allele Identifier: CA374599588

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114288717C>T , CM000671.2:g.114288717C>T	GRCh38
NC_000009.11:g.117050997C>T , CM000671.1:g.117050997C>T	GRCh37
NC_000009.10:g.116090818C>T	NCBI36
NG_034260.1:g.138173C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.4060C>T MANE Select	NP_116277.2:p.Arg1354Ter
ENST00000356083.8:c.4060C>T MANE Select	ENSP00000348385.3:p.Arg1354Ter
NM_032888.3:c.4060C>T	NP_116277.2:p.Arg1354Ter
ENST00000356083.7:c.4060C>T	ENSP00000348385.3:p.Arg1354Ter
ENST00000494090.6:c.2953C>T
XM_006717308.2:c.4006C>T	XP_006717371.1:p.Arg1336Ter
XM_006717310.2:c.1741C>T	XP_006717373.1:p.Arg581Ter
XM_006717310.3:c.1741C>T	XP_006717373.1:p.Arg581Ter
XM_011519138.1:c.4054C>T	XP_011517440.1:p.Arg1352Ter
XM_011519138.2:c.4054C>T	XP_011517440.1:p.Arg1352Ter
XM_011519139.1:c.4036C>T	XP_011517441.1:p.Arg1346Ter
XM_011519140.1:c.4006C>T	XP_011517442.1:p.Arg1336Ter
XM_011519141.1:c.4060C>T	XP_011517443.1:p.Arg1354Ter
XM_011519145.1:c.1627C>T	XP_011517447.1:p.Arg543Ter
XM_011519145.3:c.1627C>T	XP_011517447.1:p.Arg543Ter
XR_001746405.1:n.4538C>T
XR_929860.1:n.4536C>T
XR_929860.3:n.4537C>T
XR_929861.1:n.4537C>T
XR_929861.2:n.4538C>T