Canonical Allele Identifier: CA1363079496

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570243G= , CM000665.2:g.48570243G=	GRCh38
NC_000003.11:g.48607676G= , CM000665.1:g.48607676G=	GRCh37
NC_000003.10:g.48582680G=	NCBI36
NG_007065.1:g.30010C= , LRG_286:g.30010C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+32C= MANE Select	ENSP00000506558.1:n.7440+32C=
ENST00000328333.12:c.7440+32C=	ENSP00000332371.8:n.7440+32C=
ENST00000422991.1:c.435+32C=	ENSP00000391608.1:n.435+32C=
ENST00000459756.5:n.199C=
ENST00000467985.1:n.222C=
ENST00000487017.5:n.4079+32C=
NM_000094.3:c.7440+32C= , LRG_286t1:c.7440+32C=	NP_000085.1:n.7440+32C=
XM_011533336.1:c.7467+32C=	XP_011531638.1:n.7467+32C=
XM_011533337.1:c.7440+32C=	XP_011531639.1:n.7440+32C=
XM_011533338.1:c.7408-65C=	XP_011531640.1:n.7408-65C=
XM_011533339.1:c.7467+32C=	XP_011531641.1:n.7467+32C=
XM_011533340.1:c.7417C=	XP_011531642.1:p.Leu2473=
XM_011533341.1:c.7391C=	XP_011531643.1:p.Pro2464=
XM_011533342.1:c.7382-65C=	XP_011531644.1:n.7382-65C=
XR_940369.1:n.7503+32C=
XR_940370.1:n.7503+32C=
XR_940371.1:n.7503+32C=
XR_940372.1:n.7477+32C=
XM_017005688.1:c.7381-65C=	XP_016861177.1:n.7381-65C=
XM_017005689.1:c.7440+32C=	XP_016861178.1:n.7440+32C=
XM_017005690.1:c.7390C=	XP_016861179.1:p.Leu2464=
XM_017005691.1:c.7364C=	XP_016861180.1:p.Pro2455=
XM_017005692.1:c.7355-65C=	XP_016861181.1:n.7355-65C=
XR_001740003.1:n.7476+32C=
XR_001740004.1:n.7476+32C=
XR_001740005.1:n.7476+32C=
XR_001740006.1:n.7450+32C=
NM_000094.4:c.7440+32C= MANE Select	NP_000085.1:n.7440+32C=