Canonical Allele Identifier: CA1363079556

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570286G= , CM000665.2:g.48570286G=	GRCh38
NC_000003.11:g.48607719G= , CM000665.1:g.48607719G=	GRCh37
NC_000003.10:g.48582723G=	NCBI36
NG_007065.1:g.29967C= , LRG_286:g.29967C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7429C= MANE Select	ENSP00000506558.1:p.Pro2477=
ENST00000328333.12:c.7429C=	ENSP00000332371.8:p.Pro2477=
ENST00000422991.1:c.424C=	ENSP00000391608.1:p.Pro142=
ENST00000459756.5:n.156C=
ENST00000467985.1:n.179C=
ENST00000487017.5:n.4068C=
NM_000094.3:c.7429C= , LRG_286t1:c.7429C=	NP_000085.1:p.Pro2477=
XM_011533336.1:c.7456C=	XP_011531638.1:p.Pro2486=
XM_011533337.1:c.7429C=	XP_011531639.1:p.Pro2477=
XM_011533338.1:c.7408-108C=	XP_011531640.1:n.7408-108C=
XM_011533339.1:c.7456C=	XP_011531641.1:p.Pro2486=
XM_011533340.1:c.7408-34C=	XP_011531642.1:n.7408-34C=
XM_011533341.1:c.7382-34C=	XP_011531643.1:n.7382-34C=
XM_011533342.1:c.7382-108C=	XP_011531644.1:n.7382-108C=
XR_940369.1:n.7492C=
XR_940370.1:n.7492C=
XR_940371.1:n.7492C=
XR_940372.1:n.7466C=
XM_017005688.1:c.7381-108C=	XP_016861177.1:n.7381-108C=
XM_017005689.1:c.7429C=	XP_016861178.1:p.Pro2477=
XM_017005690.1:c.7381-34C=	XP_016861179.1:n.7381-34C=
XM_017005691.1:c.7355-34C=	XP_016861180.1:n.7355-34C=
XM_017005692.1:c.7355-108C=	XP_016861181.1:n.7355-108C=
XR_001740003.1:n.7465C=
XR_001740004.1:n.7465C=
XR_001740005.1:n.7465C=
XR_001740006.1:n.7439C=
NM_000094.4:c.7429C= MANE Select	NP_000085.1:p.Pro2477=