Canonical Allele Identifier: CA2550627191
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403103T>G , CM000679.2:g.42403103T>G GRCh38
NC_000017.10:g.40555121T>G , CM000679.1:g.40555121T>G GRCh37
NC_000017.9:g.37808647T>G NCBI36
NG_015845.1:g.25218A>C
NG_015845.2:g.25218A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1584A>C MANE Select ENSP00000349541.4:n.*1584A>C
ENST00000357037.5:c.*1584A>C ENSP00000349541.4:n.*1584A>C
NM_012232.5:c.*1584A>C NP_036364.2:n.*1584A>C
NM_012232.6:c.*1584A>C MANE Select NP_036364.2:n.*1584A>C
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