Canonical Allele Identifier: CA2260466066
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403111A= , CM000679.2:g.42403111A= GRCh38
NC_000017.10:g.40555129A= , CM000679.1:g.40555129A= GRCh37
NC_000017.9:g.37808655A= NCBI36
NG_015845.1:g.25210T=
NG_015845.2:g.25210T=

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1576T= MANE Select ENSP00000349541.4:n.*1576T=
ENST00000357037.5:c.*1576T= ENSP00000349541.4:n.*1576T=
NM_012232.5:c.*1576T= NP_036364.2:n.*1576T=
NM_012232.6:c.*1576T= MANE Select NP_036364.2:n.*1576T=