Canonical Allele Identifier: CA1363079580

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570299G= , CM000665.2:g.48570299G=	GRCh38
NC_000003.11:g.48607732G= , CM000665.1:g.48607732G=	GRCh37
NC_000003.10:g.48582736G=	NCBI36
NG_007065.1:g.29954C= , LRG_286:g.29954C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7416C= MANE Select	ENSP00000506558.1:p.Gly2472=
ENST00000328333.12:c.7416C=	ENSP00000332371.8:p.Gly2472=
ENST00000422991.1:c.411C=	ENSP00000391608.1:p.Gly137=
ENST00000459756.5:n.143C=
ENST00000467985.1:n.166C=
ENST00000487017.5:n.4055C=
NM_000094.3:c.7416C= , LRG_286t1:c.7416C=	NP_000085.1:p.Gly2472=
XM_011533336.1:c.7443C=	XP_011531638.1:p.Gly2481=
XM_011533337.1:c.7416C=	XP_011531639.1:p.Gly2472=
XM_011533338.1:c.7408-121C=	XP_011531640.1:n.7408-121C=
XM_011533339.1:c.7443C=	XP_011531641.1:p.Gly2481=
XM_011533340.1:c.7408-47C=	XP_011531642.1:n.7408-47C=
XM_011533341.1:c.7382-47C=	XP_011531643.1:n.7382-47C=
XM_011533342.1:c.7382-121C=	XP_011531644.1:n.7382-121C=
XR_940369.1:n.7479C=
XR_940370.1:n.7479C=
XR_940371.1:n.7479C=
XR_940372.1:n.7453C=
XM_017005688.1:c.7381-121C=	XP_016861177.1:n.7381-121C=
XM_017005689.1:c.7416C=	XP_016861178.1:p.Gly2472=
XM_017005690.1:c.7381-47C=	XP_016861179.1:n.7381-47C=
XM_017005691.1:c.7355-47C=	XP_016861180.1:n.7355-47C=
XM_017005692.1:c.7355-121C=	XP_016861181.1:n.7355-121C=
XR_001740003.1:n.7452C=
XR_001740004.1:n.7452C=
XR_001740005.1:n.7452C=
XR_001740006.1:n.7426C=
NM_000094.4:c.7416C= MANE Select	NP_000085.1:p.Gly2472=