Canonical Allele Identifier: CA1736928644
Gene: CAV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525306A= , CM000669.2:g.116525306A= GRCh38
NC_000007.13:g.116165360A= , CM000669.1:g.116165360A= GRCh37
NC_000007.12:g.115952596A= NCBI36
NG_012051.1:g.5522A=

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.30+214A= MANE Select ENSP00000339191.2:n.30+214A=
ENST00000614113.5:c.30+214A= ENSP00000479447.2:n.30+214A=
ENST00000341049.6:c.30+214A= ENSP00000339191.2:n.30+214A=
ENST00000393470.1:c.30+214A= ENSP00000377113.1:n.30+214A=
ENST00000451122.5:c.244A= ENSP00000409541.1:p.Arg82=
ENST00000489856.1:n.81+214A=
ENST00000614113.4:c.-563A= ENSP00000479447.1:n.-563A=
NM_001172895.1:c.-563A= NP_001166366.1:n.-563A=
NM_001753.4:c.30+214A= NP_001744.2:n.30+214A=
NM_001753.5:c.30+214A= MANE Select NP_001744.2:n.30+214A=