Canonical Allele Identifier: CA1363077646

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568785T= , CM000665.2:g.48568785T=	GRCh38
NC_000003.11:g.48606218T= , CM000665.1:g.48606218T=	GRCh37
NC_000003.10:g.48581222T=	NCBI36
NG_007065.1:g.31468A= , LRG_286:g.31468A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7757A= MANE Select	ENSP00000506558.1:p.Gln2586=
ENST00000328333.12:c.7757A=	ENSP00000332371.8:p.Gln2586=
ENST00000459756.5:n.580A=
ENST00000467985.1:n.603A=
ENST00000487017.5:n.4396A=
NM_000094.3:c.7757A= , LRG_286t1:c.7757A=	NP_000085.1:p.Gln2586=
XM_011533336.1:c.7784A=	XP_011531638.1:p.Gln2595=
XM_011533337.1:c.7757A=	XP_011531639.1:p.Gln2586=
XM_011533338.1:c.7724A=	XP_011531640.1:p.Gln2575=
XM_011533339.1:c.7784A=	XP_011531641.1:p.Gln2595=
XR_940369.1:n.7820A=
XR_940370.1:n.7820A=
XR_940371.1:n.7820A=
XR_940372.1:n.7794A=
XM_017005688.1:c.7697A=	XP_016861177.1:p.Gln2566=
XM_017005689.1:c.7757A=	XP_016861178.1:p.Gln2586=
XR_001740003.1:n.7793A=
XR_001740004.1:n.7793A=
XR_001740005.1:n.7793A=
XR_001740006.1:n.7767A=
NM_000094.4:c.7757A= MANE Select	NP_000085.1:p.Gln2586=