Canonical Allele Identifier: CA399582755
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404835A>C , CM000679.2:g.42404835A>C GRCh38
NC_000017.10:g.40556853A>C , CM000679.1:g.40556853A>C GRCh37
NC_000017.9:g.37810379A>C NCBI36
NG_015845.1:g.23486T>G
NG_015845.2:g.23486T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1025T>G MANE Select ENSP00000349541.4:p.Val342Gly
ENST00000357037.5:c.1025T>G ENSP00000349541.4:p.Val342Gly
NM_012232.5:c.1025T>G NP_036364.2:p.Val342Gly
NM_012232.6:c.1025T>G MANE Select NP_036364.2:p.Val342Gly