Canonical Allele Identifier: CA433531233

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564811T>A , CM000665.2:g.48564811T>A	GRCh38
NC_000003.11:g.48602244T>A , CM000665.1:g.48602244T>A	GRCh37
NC_000003.10:g.48577248T>A	NCBI36
NG_007065.1:g.35442A>T , LRG_286:g.35442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8790A>T MANE Select	ENSP00000506558.1:p.Pro2930=
ENST00000328333.12:c.8790A>T	ENSP00000332371.8:p.Pro2930=
ENST00000465238.5:n.209A>T
ENST00000466591.1:n.401A>T
ENST00000470076.1:n.182A>T
ENST00000487017.5:n.5429A>T
NM_000094.3:c.8790A>T , LRG_286t1:c.8790A>T	NP_000085.1:p.Pro2930=
XM_011533336.1:c.8817A>T	XP_011531638.1:p.Pro2939=
XM_011533337.1:c.8790A>T	XP_011531639.1:p.Pro2930=
XM_011533338.1:c.8757A>T	XP_011531640.1:p.Pro2919=
XR_940369.1:n.8926A>T
XR_940370.1:n.8890A>T
XR_940371.1:n.8887A>T
XM_017005688.1:c.8730A>T	XP_016861177.1:p.Pro2910=
XR_001740003.1:n.8899A>T
XR_001740004.1:n.8863A>T
XR_001740005.1:n.8860A>T
NM_000094.4:c.8790A>T MANE Select	NP_000085.1:p.Pro2930=