Canonical Allele Identifier: CA1363079759

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570387A= , CM000665.2:g.48570387A=	GRCh38
NC_000003.11:g.48607820A= , CM000665.1:g.48607820A=	GRCh37
NC_000003.10:g.48582824A=	NCBI36
NG_007065.1:g.29866T= , LRG_286:g.29866T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7381-53T= MANE Select	ENSP00000506558.1:n.7381-53T=
ENST00000328333.12:c.7381-53T=	ENSP00000332371.8:n.7381-53T=
ENST00000422991.1:c.376-53T=	ENSP00000391608.1:n.376-53T=
ENST00000459756.5:n.55T=
ENST00000467985.1:n.131-53T=
ENST00000487017.5:n.4020-53T=
NM_000094.3:c.7381-53T= , LRG_286t1:c.7381-53T=	NP_000085.1:n.7381-53T=
XM_011533336.1:c.7408-53T=	XP_011531638.1:n.7408-53T=
XM_011533337.1:c.7381-53T=	XP_011531639.1:n.7381-53T=
XM_011533338.1:c.7407+78T=	XP_011531640.1:n.7407+78T=
XM_011533339.1:c.7408-53T=	XP_011531641.1:n.7408-53T=
XM_011533340.1:c.7407+78T=	XP_011531642.1:n.7407+78T=
XM_011533341.1:c.7381+78T=	XP_011531643.1:n.7381+78T=
XM_011533342.1:c.7381+78T=	XP_011531644.1:n.7381+78T=
XR_940369.1:n.7444-53T=
XR_940370.1:n.7444-53T=
XR_940371.1:n.7444-53T=
XR_940372.1:n.7418-53T=
XM_017005688.1:c.7380+78T=	XP_016861177.1:n.7380+78T=
XM_017005689.1:c.7381-53T=	XP_016861178.1:n.7381-53T=
XM_017005690.1:c.7380+78T=	XP_016861179.1:n.7380+78T=
XM_017005691.1:c.7354+78T=	XP_016861180.1:n.7354+78T=
XM_017005692.1:c.7354+78T=	XP_016861181.1:n.7354+78T=
XR_001740003.1:n.7417-53T=
XR_001740004.1:n.7417-53T=
XR_001740005.1:n.7417-53T=
XR_001740006.1:n.7391-53T=
NM_000094.4:c.7381-53T= MANE Select	NP_000085.1:n.7381-53T=