Canonical Allele Identifier: CA2378129

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566927C>T , CM000665.2:g.48566927C>T	GRCh38
NC_000003.11:g.48604360C>T , CM000665.1:g.48604360C>T	GRCh37
NC_000003.10:g.48579364C>T	NCBI36
NG_007065.1:g.33326G>A , LRG_286:g.33326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8206G>A MANE Select	ENSP00000506558.1:p.Glu2736Lys
ENST00000328333.12:c.8206G>A	ENSP00000332371.8:p.Glu2736Lys
ENST00000474432.1:n.437G>A
ENST00000487017.5:n.4845G>A
NM_000094.3:c.8206G>A , LRG_286t1:c.8206G>A	NP_000085.1:p.Glu2736Lys
XM_011533336.1:c.8233G>A	XP_011531638.1:p.Glu2745Lys
XM_011533337.1:c.8206G>A	XP_011531639.1:p.Glu2736Lys
XM_011533338.1:c.8173G>A	XP_011531640.1:p.Glu2725Lys
XR_940369.1:n.8269G>A
XR_940370.1:n.8269G>A
XR_940371.1:n.8269G>A
XM_017005688.1:c.8146G>A	XP_016861177.1:p.Glu2716Lys
XR_001740003.1:n.8242G>A
XR_001740004.1:n.8242G>A
XR_001740005.1:n.8242G>A
NM_000094.4:c.8206G>A MANE Select	NP_000085.1:p.Glu2736Lys