Canonical Allele Identifier: CA1363079567

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570293A= , CM000665.2:g.48570293A=	GRCh38
NC_000003.11:g.48607726A= , CM000665.1:g.48607726A=	GRCh37
NC_000003.10:g.48582730A=	NCBI36
NG_007065.1:g.29960T= , LRG_286:g.29960T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7422T= MANE Select	ENSP00000506558.1:p.Arg2474=
ENST00000328333.12:c.7422T=	ENSP00000332371.8:p.Arg2474=
ENST00000422991.1:c.417T=	ENSP00000391608.1:p.Arg139=
ENST00000459756.5:n.149T=
ENST00000467985.1:n.172T=
ENST00000487017.5:n.4061T=
NM_000094.3:c.7422T= , LRG_286t1:c.7422T=	NP_000085.1:p.Arg2474=
XM_011533336.1:c.7449T=	XP_011531638.1:p.Arg2483=
XM_011533337.1:c.7422T=	XP_011531639.1:p.Arg2474=
XM_011533338.1:c.7408-115T=	XP_011531640.1:n.7408-115T=
XM_011533339.1:c.7449T=	XP_011531641.1:p.Arg2483=
XM_011533340.1:c.7408-41T=	XP_011531642.1:n.7408-41T=
XM_011533341.1:c.7382-41T=	XP_011531643.1:n.7382-41T=
XM_011533342.1:c.7382-115T=	XP_011531644.1:n.7382-115T=
XR_940369.1:n.7485T=
XR_940370.1:n.7485T=
XR_940371.1:n.7485T=
XR_940372.1:n.7459T=
XM_017005688.1:c.7381-115T=	XP_016861177.1:n.7381-115T=
XM_017005689.1:c.7422T=	XP_016861178.1:p.Arg2474=
XM_017005690.1:c.7381-41T=	XP_016861179.1:n.7381-41T=
XM_017005691.1:c.7355-41T=	XP_016861180.1:n.7355-41T=
XM_017005692.1:c.7355-115T=	XP_016861181.1:n.7355-115T=
XR_001740003.1:n.7458T=
XR_001740004.1:n.7458T=
XR_001740005.1:n.7458T=
XR_001740006.1:n.7432T=
NM_000094.4:c.7422T= MANE Select	NP_000085.1:p.Arg2474=