Canonical Allele Identifier: CA399581877

Gene: CAVIN1

Linked Data

• MyVariant Identifiers: chr17:g.40556709T>G (hg19) ; chr17:g.42404691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404691T>G , CM000679.2:g.42404691T>G	GRCh38
NC_000017.10:g.40556709T>G , CM000679.1:g.40556709T>G	GRCh37
NC_000017.9:g.37810235T>G	NCBI36
NG_015845.1:g.23630A>C
NG_015845.2:g.23630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1169A>C MANE Select	ENSP00000349541.4:p.Asp390Ala
ENST00000357037.5:c.1169A>C	ENSP00000349541.4:p.Asp390Ala
NM_012232.5:c.1169A>C	NP_036364.2:p.Asp390Ala
NM_012232.6:c.1169A>C MANE Select	NP_036364.2:p.Asp390Ala