Canonical Allele Identifier: CA433531272

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564853G>A , CM000665.2:g.48564853G>A	GRCh38
NC_000003.11:g.48602286G>A , CM000665.1:g.48602286G>A	GRCh37
NC_000003.10:g.48577290G>A	NCBI36
NG_007065.1:g.35400C>T , LRG_286:g.35400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8748C>T MANE Select	ENSP00000506558.1:p.Ala2916=
ENST00000328333.12:c.8748C>T	ENSP00000332371.8:p.Ala2916=
ENST00000465238.5:n.167C>T
ENST00000466591.1:n.359C>T
ENST00000470076.1:n.140C>T
ENST00000487017.5:n.5387C>T
NM_000094.3:c.8748C>T , LRG_286t1:c.8748C>T	NP_000085.1:p.Ala2916=
XM_011533336.1:c.8775C>T	XP_011531638.1:p.Ala2925=
XM_011533337.1:c.8748C>T	XP_011531639.1:p.Ala2916=
XM_011533338.1:c.8715C>T	XP_011531640.1:p.Ala2905=
XR_940369.1:n.8884C>T
XR_940370.1:n.8848C>T
XR_940371.1:n.8845C>T
XM_017005688.1:c.8688C>T	XP_016861177.1:p.Ala2896=
XR_001740003.1:n.8857C>T
XR_001740004.1:n.8821C>T
XR_001740005.1:n.8818C>T
NM_000094.4:c.8748C>T MANE Select	NP_000085.1:p.Ala2916=