Canonical Allele Identifier: CA1363077674

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568790T= , CM000665.2:g.48568790T=	GRCh38
NC_000003.11:g.48606223T= , CM000665.1:g.48606223T=	GRCh37
NC_000003.10:g.48581227T=	NCBI36
NG_007065.1:g.31463A= , LRG_286:g.31463A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7752A= MANE Select	ENSP00000506558.1:p.Gly2584=
ENST00000328333.12:c.7752A=	ENSP00000332371.8:p.Gly2584=
ENST00000459756.5:n.575A=
ENST00000467985.1:n.598A=
ENST00000487017.5:n.4391A=
NM_000094.3:c.7752A= , LRG_286t1:c.7752A=	NP_000085.1:p.Gly2584=
XM_011533336.1:c.7779A=	XP_011531638.1:p.Gly2593=
XM_011533337.1:c.7752A=	XP_011531639.1:p.Gly2584=
XM_011533338.1:c.7719A=	XP_011531640.1:p.Gly2573=
XM_011533339.1:c.7779A=	XP_011531641.1:p.Gly2593=
XR_940369.1:n.7815A=
XR_940370.1:n.7815A=
XR_940371.1:n.7815A=
XR_940372.1:n.7789A=
XM_017005688.1:c.7692A=	XP_016861177.1:p.Gly2564=
XM_017005689.1:c.7752A=	XP_016861178.1:p.Gly2584=
XR_001740003.1:n.7788A=
XR_001740004.1:n.7788A=
XR_001740005.1:n.7788A=
XR_001740006.1:n.7762A=
NM_000094.4:c.7752A= MANE Select	NP_000085.1:p.Gly2584=