Canonical Allele Identifier: CA1363076650

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568121T= , CM000665.2:g.48568121T=	GRCh38
NC_000003.11:g.48605554T= , CM000665.1:g.48605554T=	GRCh37
NC_000003.10:g.48580558T=	NCBI36
NG_007065.1:g.32132A= , LRG_286:g.32132A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7844A= MANE Select	ENSP00000506558.1:p.Asp2615=
ENST00000328333.12:c.7844A=	ENSP00000332371.8:p.Asp2615=
ENST00000459756.5:n.667A=
ENST00000487017.5:n.4483A=
NM_000094.3:c.7844A= , LRG_286t1:c.7844A=	NP_000085.1:p.Asp2615=
XM_011533336.1:c.7871A=	XP_011531638.1:p.Asp2624=
XM_011533337.1:c.7844A=	XP_011531639.1:p.Asp2615=
XM_011533338.1:c.7811A=	XP_011531640.1:p.Asp2604=
XR_940369.1:n.7907A=
XR_940370.1:n.7907A=
XR_940371.1:n.7907A=
XM_017005688.1:c.7784A=	XP_016861177.1:p.Asp2595=
XR_001740003.1:n.7880A=
XR_001740004.1:n.7880A=
XR_001740005.1:n.7880A=
NM_000094.4:c.7844A= MANE Select	NP_000085.1:p.Asp2615=