Canonical Allele Identifier: CA4447748

Gene: CAV1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525108G>A , CM000669.2:g.116525108G>A	GRCh38
NC_000007.13:g.116165162G>A , CM000669.1:g.116165162G>A	GRCh37
NC_000007.12:g.115952398G>A	NCBI36
NG_012051.1:g.5324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+16G>A MANE Select	ENSP00000339191.2:n.30+16G>A
ENST00000614113.5:c.30+16G>A	ENSP00000479447.2:n.30+16G>A
ENST00000341049.6:c.30+16G>A	ENSP00000339191.2:n.30+16G>A
ENST00000393470.1:c.30+16G>A	ENSP00000377113.1:n.30+16G>A
ENST00000451122.5:c.46G>A	ENSP00000409541.1:p.Gly16Arg
ENST00000489856.1:n.81+16G>A
ENST00000614113.4:c.-761G>A	ENSP00000479447.1:n.-761G>A
NM_001172895.1:c.-761G>A	NP_001166366.1:n.-761G>A
NM_001753.4:c.30+16G>A	NP_001744.2:n.30+16G>A
NM_001753.5:c.30+16G>A MANE Select	NP_001744.2:n.30+16G>A