Canonical Allele Identifier: CA2260466819
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404801C= , CM000679.2:g.42404801C= GRCh38
NC_000017.10:g.40556819C= , CM000679.1:g.40556819C= GRCh37
NC_000017.9:g.37810345C= NCBI36
NG_015845.1:g.23520G=
NG_015845.2:g.23520G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1059G= MANE Select ENSP00000349541.4:p.Ala353=
ENST00000357037.5:c.1059G= ENSP00000349541.4:p.Ala353=
NM_012232.5:c.1059G= NP_036364.2:p.Ala353=
NM_012232.6:c.1059G= MANE Select NP_036364.2:p.Ala353=