Canonical Allele Identifier: CA399582613
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404797G>T , CM000679.2:g.42404797G>T GRCh38
NC_000017.10:g.40556815G>T , CM000679.1:g.40556815G>T GRCh37
NC_000017.9:g.37810341G>T NCBI36
NG_015845.1:g.23524C>A
NG_015845.2:g.23524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1063C>A MANE Select ENSP00000349541.4:p.Arg355Ser
ENST00000357037.5:c.1063C>A ENSP00000349541.4:p.Arg355Ser
NM_012232.5:c.1063C>A NP_036364.2:p.Arg355Ser
NM_012232.6:c.1063C>A MANE Select NP_036364.2:p.Arg355Ser