Canonical Allele Identifier: CA4447819

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116526548C>G , CM000669.2:g.116526548C>G	GRCh38
NC_000007.13:g.116166602C>G , CM000669.1:g.116166602C>G	GRCh37
NC_000007.12:g.115953838C>G	NCBI36
NG_012051.1:g.6764C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.54C>G MANE Select	ENSP00000339191.2:p.Ile18Met
ENST00000405348.6:c.-40C>G	ENSP00000384348.1:n.-40C>G
ENST00000614113.5:c.232C>G	ENSP00000479447.2:p.Pro78Ala
ENST00000341049.6:c.54C>G	ENSP00000339191.2:p.Ile18Met
ENST00000393467.1:c.-40C>G	ENSP00000377110.1:n.-40C>G
ENST00000393468.1:c.-40C>G	ENSP00000377111.1:n.-40C>G
ENST00000393470.1:c.31-10C>G	ENSP00000377113.1:n.31-10C>G
ENST00000405348.5:c.-40C>G	ENSP00000384348.1:n.-40C>G
ENST00000451122.5:c.*506C>G	ENSP00000409541.1:n.*506C>G
ENST00000456473.5:c.-40C>G	ENSP00000389033.1:n.-40C>G
ENST00000489856.1:n.105C>G
ENST00000614113.4:c.-40C>G	ENSP00000479447.1:n.-40C>G
NM_001172895.1:c.-40C>G	NP_001166366.1:n.-40C>G
NM_001172896.1:c.-40C>G	NP_001166367.1:n.-40C>G
NM_001172897.1:c.-40C>G	NP_001166368.1:n.-40C>G
NM_001753.4:c.54C>G	NP_001744.2:p.Ile18Met
NM_001753.5:c.54C>G MANE Select	NP_001744.2:p.Ile18Met
NM_001172896.2:c.-40C>G	NP_001166367.1:n.-40C>G
NM_001172897.2:c.-40C>G	NP_001166368.1:n.-40C>G