Canonical Allele Identifier: CA1363077228

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568522C= , CM000665.2:g.48568522C=	GRCh38
NC_000003.11:g.48605955C= , CM000665.1:g.48605955C=	GRCh37
NC_000003.10:g.48580959C=	NCBI36
NG_007065.1:g.31731G= , LRG_286:g.31731G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7771G= MANE Select	ENSP00000506558.1:p.Ala2591=
ENST00000328333.12:c.7771G=	ENSP00000332371.8:p.Ala2591=
ENST00000459756.5:n.594G=
ENST00000467985.1:n.617G=
ENST00000487017.5:n.4410G=
NM_000094.3:c.7771G= , LRG_286t1:c.7771G=	NP_000085.1:p.Ala2591=
XM_011533336.1:c.7798G=	XP_011531638.1:p.Ala2600=
XM_011533337.1:c.7771G=	XP_011531639.1:p.Ala2591=
XM_011533338.1:c.7738G=	XP_011531640.1:p.Ala2580=
XM_011533339.1:c.7798G=	XP_011531641.1:p.Ala2600=
XR_940369.1:n.7834G=
XR_940370.1:n.7834G=
XR_940371.1:n.7834G=
XR_940372.1:n.7808G=
XM_017005688.1:c.7711G=	XP_016861177.1:p.Ala2571=
XM_017005689.1:c.7771G=	XP_016861178.1:p.Ala2591=
XR_001740003.1:n.7807G=
XR_001740004.1:n.7807G=
XR_001740005.1:n.7807G=
XR_001740006.1:n.7781G=
NM_000094.4:c.7771G= MANE Select	NP_000085.1:p.Ala2591=