Canonical Allele Identifier: CA1363077233

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568525C= , CM000665.2:g.48568525C=	GRCh38
NC_000003.11:g.48605958C= , CM000665.1:g.48605958C=	GRCh37
NC_000003.10:g.48580962C=	NCBI36
NG_007065.1:g.31728G= , LRG_286:g.31728G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7768G= MANE Select	ENSP00000506558.1:p.Gly2590=
ENST00000328333.12:c.7768G=	ENSP00000332371.8:p.Gly2590=
ENST00000459756.5:n.591G=
ENST00000467985.1:n.614G=
ENST00000487017.5:n.4407G=
NM_000094.3:c.7768G= , LRG_286t1:c.7768G=	NP_000085.1:p.Gly2590=
XM_011533336.1:c.7795G=	XP_011531638.1:p.Gly2599=
XM_011533337.1:c.7768G=	XP_011531639.1:p.Gly2590=
XM_011533338.1:c.7735G=	XP_011531640.1:p.Gly2579=
XM_011533339.1:c.7795G=	XP_011531641.1:p.Gly2599=
XR_940369.1:n.7831G=
XR_940370.1:n.7831G=
XR_940371.1:n.7831G=
XR_940372.1:n.7805G=
XM_017005688.1:c.7708G=	XP_016861177.1:p.Gly2570=
XM_017005689.1:c.7768G=	XP_016861178.1:p.Gly2590=
XR_001740003.1:n.7804G=
XR_001740004.1:n.7804G=
XR_001740005.1:n.7804G=
XR_001740006.1:n.7778G=
NM_000094.4:c.7768G= MANE Select	NP_000085.1:p.Gly2590=