Canonical Allele Identifier: CA1363077239

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568527G= , CM000665.2:g.48568527G=	GRCh38
NC_000003.11:g.48605960G= , CM000665.1:g.48605960G=	GRCh37
NC_000003.10:g.48580964G=	NCBI36
NG_007065.1:g.31726C= , LRG_286:g.31726C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7766C= MANE Select	ENSP00000506558.1:p.Pro2589=
ENST00000328333.12:c.7766C=	ENSP00000332371.8:p.Pro2589=
ENST00000459756.5:n.589C=
ENST00000467985.1:n.612C=
ENST00000487017.5:n.4405C=
NM_000094.3:c.7766C= , LRG_286t1:c.7766C=	NP_000085.1:p.Pro2589=
XM_011533336.1:c.7793C=	XP_011531638.1:p.Pro2598=
XM_011533337.1:c.7766C=	XP_011531639.1:p.Pro2589=
XM_011533338.1:c.7733C=	XP_011531640.1:p.Pro2578=
XM_011533339.1:c.7793C=	XP_011531641.1:p.Pro2598=
XR_940369.1:n.7829C=
XR_940370.1:n.7829C=
XR_940371.1:n.7829C=
XR_940372.1:n.7803C=
XM_017005688.1:c.7706C=	XP_016861177.1:p.Pro2569=
XM_017005689.1:c.7766C=	XP_016861178.1:p.Pro2589=
XR_001740003.1:n.7802C=
XR_001740004.1:n.7802C=
XR_001740005.1:n.7802C=
XR_001740006.1:n.7776C=
NM_000094.4:c.7766C= MANE Select	NP_000085.1:p.Pro2589=