Canonical Allele Identifier: CA433531527

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564967C>T , CM000665.2:g.48564967C>T	GRCh38
NC_000003.11:g.48602400C>T , CM000665.1:g.48602400C>T	GRCh37
NC_000003.10:g.48577404C>T	NCBI36
NG_007065.1:g.35286G>A , LRG_286:g.35286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8634G>A MANE Select	ENSP00000506558.1:p.Leu2878=
ENST00000328333.12:c.8634G>A	ENSP00000332371.8:p.Leu2878=
ENST00000465238.5:n.53G>A
ENST00000466591.1:n.245G>A
ENST00000470076.1:n.26G>A
ENST00000487017.5:n.5273G>A
NM_000094.3:c.8634G>A , LRG_286t1:c.8634G>A	NP_000085.1:p.Leu2878=
XM_011533336.1:c.8661G>A	XP_011531638.1:p.Leu2887=
XM_011533337.1:c.8634G>A	XP_011531639.1:p.Leu2878=
XM_011533338.1:c.8601G>A	XP_011531640.1:p.Leu2867=
XR_940369.1:n.8770G>A
XR_940370.1:n.8734G>A
XR_940371.1:n.8731G>A
XM_017005688.1:c.8574G>A	XP_016861177.1:p.Leu2858=
XR_001740003.1:n.8743G>A
XR_001740004.1:n.8707G>A
XR_001740005.1:n.8704G>A
NM_000094.4:c.8634G>A MANE Select	NP_000085.1:p.Leu2878=