Canonical Allele Identifier: CA1363079634

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570326A= , CM000665.2:g.48570326A=	GRCh38
NC_000003.11:g.48607759A= , CM000665.1:g.48607759A=	GRCh37
NC_000003.10:g.48582763A=	NCBI36
NG_007065.1:g.29927T= , LRG_286:g.29927T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7389T= MANE Select	ENSP00000506558.1:p.Pro2463=
ENST00000328333.12:c.7389T=	ENSP00000332371.8:p.Pro2463=
ENST00000422991.1:c.384T=	ENSP00000391608.1:p.Pro128=
ENST00000459756.5:n.116T=
ENST00000467985.1:n.139T=
ENST00000487017.5:n.4028T=
NM_000094.3:c.7389T= , LRG_286t1:c.7389T=	NP_000085.1:p.Pro2463=
XM_011533336.1:c.7416T=	XP_011531638.1:p.Pro2472=
XM_011533337.1:c.7389T=	XP_011531639.1:p.Pro2463=
XM_011533338.1:c.7407+139T=	XP_011531640.1:n.7407+139T=
XM_011533339.1:c.7416T=	XP_011531641.1:p.Pro2472=
XM_011533340.1:c.7408-74T=	XP_011531642.1:n.7408-74T=
XM_011533341.1:c.7382-74T=	XP_011531643.1:n.7382-74T=
XM_011533342.1:c.7381+139T=	XP_011531644.1:n.7381+139T=
XR_940369.1:n.7452T=
XR_940370.1:n.7452T=
XR_940371.1:n.7452T=
XR_940372.1:n.7426T=
XM_017005688.1:c.7380+139T=	XP_016861177.1:n.7380+139T=
XM_017005689.1:c.7389T=	XP_016861178.1:p.Pro2463=
XM_017005690.1:c.7381-74T=	XP_016861179.1:n.7381-74T=
XM_017005691.1:c.7355-74T=	XP_016861180.1:n.7355-74T=
XM_017005692.1:c.7354+139T=	XP_016861181.1:n.7354+139T=
XR_001740003.1:n.7425T=
XR_001740004.1:n.7425T=
XR_001740005.1:n.7425T=
XR_001740006.1:n.7399T=
NM_000094.4:c.7389T= MANE Select	NP_000085.1:p.Pro2463=