Canonical Allele Identifier: CA2684555699

Gene: CAV1

Linked Data

• gnomAD v4: 7-116525319-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525319G>T , CM000669.2:g.116525319G>T	GRCh38
NC_000007.13:g.116165373G>T , CM000669.1:g.116165373G>T	GRCh37
NC_000007.12:g.115952609G>T	NCBI36
NG_012051.1:g.5535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+227G>T MANE Select	ENSP00000339191.2:n.30+227G>T
ENST00000614113.5:c.30+227G>T	ENSP00000479447.2:n.30+227G>T
ENST00000341049.6:c.30+227G>T	ENSP00000339191.2:n.30+227G>T
ENST00000393470.1:c.30+227G>T	ENSP00000377113.1:n.30+227G>T
ENST00000451122.5:c.257G>T	ENSP00000409541.1:p.Ser86Ile
ENST00000489856.1:n.81+227G>T
ENST00000614113.4:c.-550G>T	ENSP00000479447.1:n.-550G>T
NM_001172895.1:c.-550G>T	NP_001166366.1:n.-550G>T
NM_001753.4:c.30+227G>T	NP_001744.2:n.30+227G>T
NM_001753.5:c.30+227G>T MANE Select	NP_001744.2:n.30+227G>T