Canonical Allele Identifier: CA2378362

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48569387G>A , CM000665.2:g.48569387G>A	GRCh38
NC_000003.11:g.48606820G>A , CM000665.1:g.48606820G>A	GRCh37
NC_000003.10:g.48581824G>A	NCBI36
NG_007065.1:g.30866C>T , LRG_286:g.30866C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7674C>T MANE Select	NP_000085.1:p.Asp2558=
ENST00000681320.1:c.7674C>T MANE Select	ENSP00000506558.1:p.Asp2558=
NM_000094.3:c.7674C>T , LRG_286t1:c.7674C>T	NP_000085.1:p.Asp2558=
ENST00000328333.12:c.7674C>T	ENSP00000332371.8:p.Asp2558=
ENST00000459756.5:n.497C>T
ENST00000467985.1:n.520C>T
ENST00000487017.5:n.4313C>T
XM_011533336.1:c.7701C>T	XP_011531638.1:p.Asp2567=
XM_011533337.1:c.7674C>T	XP_011531639.1:p.Asp2558=
XM_011533338.1:c.7641C>T	XP_011531640.1:p.Asp2547=
XM_011533339.1:c.7701C>T	XP_011531641.1:p.Asp2567=
XM_017005688.1:c.7614C>T	XP_016861177.1:p.Asp2538=
XM_017005689.1:c.7674C>T	XP_016861178.1:p.Asp2558=
XR_001740003.1:n.7710C>T
XR_001740004.1:n.7710C>T
XR_001740005.1:n.7710C>T
XR_001740006.1:n.7684C>T
XR_940369.1:n.7737C>T
XR_940370.1:n.7737C>T
XR_940371.1:n.7737C>T
XR_940372.1:n.7711C>T