Canonical Allele Identifier: CA399582767
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404837C>G , CM000679.2:g.42404837C>G GRCh38
NC_000017.10:g.40556855C>G , CM000679.1:g.40556855C>G GRCh37
NC_000017.9:g.37810381C>G NCBI36
NG_015845.1:g.23484G>C
NG_015845.2:g.23484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1023G>C MANE Select ENSP00000349541.4:p.Met341Ile
ENST00000357037.5:c.1023G>C ENSP00000349541.4:p.Met341Ile
NM_012232.5:c.1023G>C NP_036364.2:p.Met341Ile
NM_012232.6:c.1023G>C MANE Select NP_036364.2:p.Met341Ile