Canonical Allele Identifier: CA4447855

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116558996C>T , CM000669.2:g.116558996C>T	GRCh38
NC_000007.13:g.116199050C>T , CM000669.1:g.116199050C>T	GRCh37
NC_000007.12:g.115986286C>T	NCBI36
NG_012051.1:g.39212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.246C>T MANE Select	ENSP00000339191.2:p.Asp82=
ENST00000405348.6:c.153C>T	ENSP00000384348.1:p.Asp51=
ENST00000614113.5:c.*76C>T	ENSP00000479447.2:n.*76C>T
ENST00000341049.6:c.246C>T	ENSP00000339191.2:p.Asp82=
ENST00000393467.1:c.153C>T	ENSP00000377110.1:p.Asp51=
ENST00000393468.1:c.153C>T	ENSP00000377111.1:p.Asp51=
ENST00000393470.1:c.213C>T	ENSP00000377113.1:p.Asp71=
ENST00000405348.5:c.153C>T	ENSP00000384348.1:p.Asp51=
ENST00000451122.5:c.*698C>T	ENSP00000409541.1:n.*698C>T
ENST00000456473.5:c.153C>T	ENSP00000389033.1:p.Asp51=
ENST00000614113.4:c.153C>T	ENSP00000479447.1:p.Asp51=
NM_001172895.1:c.153C>T	NP_001166366.1:p.Asp51=
NM_001172896.1:c.153C>T	NP_001166367.1:p.Asp51=
NM_001172897.1:c.153C>T	NP_001166368.1:p.Asp51=
NM_001753.4:c.246C>T	NP_001744.2:p.Asp82=
NM_001753.5:c.246C>T MANE Select	NP_001744.2:p.Asp82=
NM_001172896.2:c.153C>T	NP_001166367.1:p.Asp51=
NM_001172897.2:c.153C>T	NP_001166368.1:p.Asp51=