Canonical Allele Identifier: CA1736928658

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525315C= , CM000669.2:g.116525315C=	GRCh38
NC_000007.13:g.116165369C= , CM000669.1:g.116165369C=	GRCh37
NC_000007.12:g.115952605C=	NCBI36
NG_012051.1:g.5531C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.30+223C= MANE Select	ENSP00000339191.2:n.30+223C=
ENST00000614113.5:c.30+223C=	ENSP00000479447.2:n.30+223C=
ENST00000341049.6:c.30+223C=	ENSP00000339191.2:n.30+223C=
ENST00000393470.1:c.30+223C=	ENSP00000377113.1:n.30+223C=
ENST00000451122.5:c.253C=	ENSP00000409541.1:p.Leu85=
ENST00000489856.1:n.81+223C=
ENST00000614113.4:c.-554C=	ENSP00000479447.1:n.-554C=
NM_001172895.1:c.-554C=	NP_001166366.1:n.-554C=
NM_001753.4:c.30+223C=	NP_001744.2:n.30+223C=
NM_001753.5:c.30+223C= MANE Select	NP_001744.2:n.30+223C=