Canonical Allele Identifier: CA12637752

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116526346C>T , CM000669.2:g.116526346C>T	GRCh38
NC_000007.13:g.116166400C>T , CM000669.1:g.116166400C>T	GRCh37
NC_000007.12:g.115953636C>T	NCBI36
NG_012051.1:g.6562C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001753.5:c.31-179C>T MANE Select	NP_001744.2:n.31-179C>T
ENST00000341049.7:c.31-179C>T MANE Select	ENSP00000339191.2:n.31-179C>T
NM_001172895.1:c.-63-179C>T	NP_001166366.1:n.-63-179C>T
NM_001172896.1:c.-242C>T	NP_001166367.1:n.-242C>T
NM_001753.4:c.31-179C>T	NP_001744.2:n.31-179C>T
ENST00000341049.6:c.31-179C>T	ENSP00000339191.2:n.31-179C>T
ENST00000393467.1:c.-242C>T	ENSP00000377110.1:n.-242C>T
ENST00000393468.1:c.-106C>T	ENSP00000377111.1:n.-106C>T
ENST00000393470.1:c.31-212C>T	ENSP00000377113.1:n.31-212C>T
ENST00000405348.5:c.-63-179C>T	ENSP00000384348.1:n.-63-179C>T
ENST00000405348.6:c.-63-179C>T	ENSP00000384348.1:n.-63-179C>T
ENST00000451122.5:c.*483-179C>T	ENSP00000409541.1:n.*483-179C>T
ENST00000456473.5:c.-63-179C>T	ENSP00000389033.1:n.-63-179C>T
ENST00000489856.1:n.82-179C>T
ENST00000614113.4:c.-63-179C>T	ENSP00000479447.1:n.-63-179C>T
ENST00000614113.5:c.209-179C>T	ENSP00000479447.2:n.209-179C>T