Canonical Allele Identifier: CA1363075940

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567712T= , CM000665.2:g.48567712T=	GRCh38
NC_000003.11:g.48605145T= , CM000665.1:g.48605145T=	GRCh37
NC_000003.10:g.48580149T=	NCBI36
NG_007065.1:g.32541A= , LRG_286:g.32541A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7981A= MANE Select	ENSP00000506558.1:p.Met2661=
ENST00000328333.12:c.7981A=	ENSP00000332371.8:p.Met2661=
ENST00000459756.5:n.804A=
ENST00000487017.5:n.4620A=
NM_000094.3:c.7981A= , LRG_286t1:c.7981A=	NP_000085.1:p.Met2661=
XM_011533336.1:c.8008A=	XP_011531638.1:p.Met2670=
XM_011533337.1:c.7981A=	XP_011531639.1:p.Met2661=
XM_011533338.1:c.7948A=	XP_011531640.1:p.Met2650=
XR_940369.1:n.8044A=
XR_940370.1:n.8044A=
XR_940371.1:n.8044A=
XM_017005688.1:c.7921A=	XP_016861177.1:p.Met2641=
XR_001740003.1:n.8017A=
XR_001740004.1:n.8017A=
XR_001740005.1:n.8017A=
NM_000094.4:c.7981A= MANE Select	NP_000085.1:p.Met2661=