Canonical Allele Identifier: CA1363079598
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570305G= , CM000665.2:g.48570305G= GRCh38
NC_000003.11:g.48607738G= , CM000665.1:g.48607738G= GRCh37
NC_000003.10:g.48582742G= NCBI36
NG_007065.1:g.29948C= , LRG_286:g.29948C=

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7410C= MANE Select ENSP00000506558.1:p.Pro2470=
ENST00000328333.12:c.7410C= ENSP00000332371.8:p.Pro2470=
ENST00000422991.1:c.405C= ENSP00000391608.1:p.Pro135=
ENST00000459756.5:n.137C=
ENST00000467985.1:n.160C=
ENST00000487017.5:n.4049C=
NM_000094.3:c.7410C= , LRG_286t1:c.7410C= NP_000085.1:p.Pro2470=
XM_011533336.1:c.7437C= XP_011531638.1:p.Pro2479=
XM_011533337.1:c.7410C= XP_011531639.1:p.Pro2470=
XM_011533338.1:c.7408-127C= XP_011531640.1:n.7408-127C=
XM_011533339.1:c.7437C= XP_011531641.1:p.Pro2479=
XM_011533340.1:c.7408-53C= XP_011531642.1:n.7408-53C=
XM_011533341.1:c.7382-53C= XP_011531643.1:n.7382-53C=
XM_011533342.1:c.7382-127C= XP_011531644.1:n.7382-127C=
XR_940369.1:n.7473C=
XR_940370.1:n.7473C=
XR_940371.1:n.7473C=
XR_940372.1:n.7447C=
XM_017005688.1:c.7381-127C= XP_016861177.1:n.7381-127C=
XM_017005689.1:c.7410C= XP_016861178.1:p.Pro2470=
XM_017005690.1:c.7381-53C= XP_016861179.1:n.7381-53C=
XM_017005691.1:c.7355-53C= XP_016861180.1:n.7355-53C=
XM_017005692.1:c.7355-127C= XP_016861181.1:n.7355-127C=
XR_001740003.1:n.7446C=
XR_001740004.1:n.7446C=
XR_001740005.1:n.7446C=
XR_001740006.1:n.7420C=
NM_000094.4:c.7410C= MANE Select NP_000085.1:p.Pro2470=