Canonical Allele Identifier: CA1363077713

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568810C= , CM000665.2:g.48568810C=	GRCh38
NC_000003.11:g.48606243C= , CM000665.1:g.48606243C=	GRCh37
NC_000003.10:g.48581247C=	NCBI36
NG_007065.1:g.31443G= , LRG_286:g.31443G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7732G= MANE Select	ENSP00000506558.1:p.Gly2578=
ENST00000328333.12:c.7732G=	ENSP00000332371.8:p.Gly2578=
ENST00000459756.5:n.555G=
ENST00000467985.1:n.578G=
ENST00000487017.5:n.4371G=
NM_000094.3:c.7732G= , LRG_286t1:c.7732G=	NP_000085.1:p.Gly2578=
XM_011533336.1:c.7759G=	XP_011531638.1:p.Gly2587=
XM_011533337.1:c.7732G=	XP_011531639.1:p.Gly2578=
XM_011533338.1:c.7699G=	XP_011531640.1:p.Gly2567=
XM_011533339.1:c.7759G=	XP_011531641.1:p.Gly2587=
XR_940369.1:n.7795G=
XR_940370.1:n.7795G=
XR_940371.1:n.7795G=
XR_940372.1:n.7769G=
XM_017005688.1:c.7672G=	XP_016861177.1:p.Gly2558=
XM_017005689.1:c.7732G=	XP_016861178.1:p.Gly2578=
XR_001740003.1:n.7768G=
XR_001740004.1:n.7768G=
XR_001740005.1:n.7768G=
XR_001740006.1:n.7742G=
NM_000094.4:c.7732G= MANE Select	NP_000085.1:p.Gly2578=