Canonical Allele Identifier: CA399582591
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404788C>T , CM000679.2:g.42404788C>T GRCh38
NC_000017.10:g.40556806C>T , CM000679.1:g.40556806C>T GRCh37
NC_000017.9:g.37810332C>T NCBI36
NG_015845.1:g.23533G>A
NG_015845.2:g.23533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1072G>A MANE Select ENSP00000349541.4:p.Ala358Thr
ENST00000357037.5:c.1072G>A ENSP00000349541.4:p.Ala358Thr
NM_012232.5:c.1072G>A NP_036364.2:p.Ala358Thr
NM_012232.6:c.1072G>A MANE Select NP_036364.2:p.Ala358Thr