Canonical Allele Identifier: CA1363076041

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567748G= , CM000665.2:g.48567748G=	GRCh38
NC_000003.11:g.48605181G= , CM000665.1:g.48605181G=	GRCh37
NC_000003.10:g.48580185G=	NCBI36
NG_007065.1:g.32505C= , LRG_286:g.32505C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7945C= MANE Select	ENSP00000506558.1:p.Pro2649=
ENST00000328333.12:c.7945C=	ENSP00000332371.8:p.Pro2649=
ENST00000459756.5:n.768C=
ENST00000487017.5:n.4584C=
NM_000094.3:c.7945C= , LRG_286t1:c.7945C=	NP_000085.1:p.Pro2649=
XM_011533336.1:c.7972C=	XP_011531638.1:p.Pro2658=
XM_011533337.1:c.7945C=	XP_011531639.1:p.Pro2649=
XM_011533338.1:c.7912C=	XP_011531640.1:p.Pro2638=
XR_940369.1:n.8008C=
XR_940370.1:n.8008C=
XR_940371.1:n.8008C=
XM_017005688.1:c.7885C=	XP_016861177.1:p.Pro2629=
XR_001740003.1:n.7981C=
XR_001740004.1:n.7981C=
XR_001740005.1:n.7981C=
NM_000094.4:c.7945C= MANE Select	NP_000085.1:p.Pro2649=