Canonical Allele Identifier: CA352643993

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48569440G>A , CM000665.2:g.48569440G>A	GRCh38
NC_000003.11:g.48606873G>A , CM000665.1:g.48606873G>A	GRCh37
NC_000003.10:g.48581877G>A	NCBI36
NG_007065.1:g.30813C>T , LRG_286:g.30813C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7621C>T MANE Select	NP_000085.1:p.Arg2541Ter
ENST00000681320.1:c.7621C>T MANE Select	ENSP00000506558.1:p.Arg2541Ter
NM_000094.3:c.7621C>T , LRG_286t1:c.7621C>T	NP_000085.1:p.Arg2541Ter
ENST00000328333.12:c.7621C>T	ENSP00000332371.8:p.Arg2541Ter
ENST00000459756.5:n.444C>T
ENST00000467985.1:n.467C>T
ENST00000487017.5:n.4260C>T
XM_011533336.1:c.7648C>T	XP_011531638.1:p.Arg2550Ter
XM_011533337.1:c.7621C>T	XP_011531639.1:p.Arg2541Ter
XM_011533338.1:c.7588C>T	XP_011531640.1:p.Arg2530Ter
XM_011533339.1:c.7648C>T	XP_011531641.1:p.Arg2550Ter
XM_017005688.1:c.7561C>T	XP_016861177.1:p.Arg2521Ter
XM_017005689.1:c.7621C>T	XP_016861178.1:p.Arg2541Ter
XR_001740003.1:n.7657C>T
XR_001740004.1:n.7657C>T
XR_001740005.1:n.7657C>T
XR_001740006.1:n.7631C>T
XR_940369.1:n.7684C>T
XR_940370.1:n.7684C>T
XR_940371.1:n.7684C>T
XR_940372.1:n.7658C>T