Canonical Allele Identifier: CA2573137092

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564985G>T , CM000665.2:g.48564985G>T	GRCh38
NC_000003.11:g.48602418G>T , CM000665.1:g.48602418G>T	GRCh37
NC_000003.10:g.48577422G>T	NCBI36
NG_007065.1:g.35268C>A , LRG_286:g.35268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8621-5C>A MANE Select	ENSP00000506558.1:n.8621-5C>A
ENST00000328333.12:c.8621-5C>A	ENSP00000332371.8:n.8621-5C>A
ENST00000465238.5:n.35C>A
ENST00000466591.1:n.232-5C>A
ENST00000470076.1:n.8C>A
ENST00000487017.5:n.5260-5C>A
NM_000094.3:c.8621-5C>A , LRG_286t1:c.8621-5C>A	NP_000085.1:n.8621-5C>A
XM_011533336.1:c.8648-5C>A	XP_011531638.1:n.8648-5C>A
XM_011533337.1:c.8621-5C>A	XP_011531639.1:n.8621-5C>A
XM_011533338.1:c.8588-5C>A	XP_011531640.1:n.8588-5C>A
XR_940369.1:n.8757-5C>A
XR_940370.1:n.8721-5C>A
XR_940371.1:n.8718-5C>A
XM_017005688.1:c.8561-5C>A	XP_016861177.1:n.8561-5C>A
XR_001740003.1:n.8730-5C>A
XR_001740004.1:n.8694-5C>A
XR_001740005.1:n.8691-5C>A
NM_000094.4:c.8621-5C>A MANE Select	NP_000085.1:n.8621-5C>A