Canonical Allele Identifier: CA2260466822
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404806C= , CM000679.2:g.42404806C= GRCh38
NC_000017.10:g.40556824C= , CM000679.1:g.40556824C= GRCh37
NC_000017.9:g.37810350C= NCBI36
NG_015845.1:g.23515G=
NG_015845.2:g.23515G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1054G= MANE Select ENSP00000349541.4:p.Gly352=
ENST00000357037.5:c.1054G= ENSP00000349541.4:p.Gly352=
NM_012232.5:c.1054G= NP_036364.2:p.Gly352=
NM_012232.6:c.1054G= MANE Select NP_036364.2:p.Gly352=