Canonical Allele Identifier: CA1363077700

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568798G= , CM000665.2:g.48568798G=	GRCh38
NC_000003.11:g.48606231G= , CM000665.1:g.48606231G=	GRCh37
NC_000003.10:g.48581235G=	NCBI36
NG_007065.1:g.31455C= , LRG_286:g.31455C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7744C= MANE Select	ENSP00000506558.1:p.Leu2582=
ENST00000328333.12:c.7744C=	ENSP00000332371.8:p.Leu2582=
ENST00000459756.5:n.567C=
ENST00000467985.1:n.590C=
ENST00000487017.5:n.4383C=
NM_000094.3:c.7744C= , LRG_286t1:c.7744C=	NP_000085.1:p.Leu2582=
XM_011533336.1:c.7771C=	XP_011531638.1:p.Leu2591=
XM_011533337.1:c.7744C=	XP_011531639.1:p.Leu2582=
XM_011533338.1:c.7711C=	XP_011531640.1:p.Leu2571=
XM_011533339.1:c.7771C=	XP_011531641.1:p.Leu2591=
XR_940369.1:n.7807C=
XR_940370.1:n.7807C=
XR_940371.1:n.7807C=
XR_940372.1:n.7781C=
XM_017005688.1:c.7684C=	XP_016861177.1:p.Leu2562=
XM_017005689.1:c.7744C=	XP_016861178.1:p.Leu2582=
XR_001740003.1:n.7780C=
XR_001740004.1:n.7780C=
XR_001740005.1:n.7780C=
XR_001740006.1:n.7754C=
NM_000094.4:c.7744C= MANE Select	NP_000085.1:p.Leu2582=