Canonical Allele Identifier: CA340440682

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs761175244
• gnomAD v2: 1-55074955-C-A
• gnomAD v3: 1-54609282-C-A
• gnomAD v4: 1-54609282-C-A
• MyVariant Identifiers: chr1:g.55074955C>A (hg19) ; chr1:g.54609282C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609282C>A , CM000663.2:g.54609282C>A	GRCh38
NC_000001.10:g.55074955C>A , CM000663.1:g.55074955C>A	GRCh37
NC_000001.9:g.54847543C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1744G>T (FAM151A) MANE Select	ENSP00000306888.2:p.Val582Phe
ENST00000343744.7:c.*170C>A (ACOT11) MANE Select	ENSP00000340260.2:n.*170C>A
ENST00000302250.6:c.1744G>T (FAM151A)	ENSP00000306888.2:p.Val582Phe
ENST00000343744.6:c.*170C>A (ACOT11)	ENSP00000340260.2:n.*170C>A
ENST00000371304.2:c.1183G>T (FAM151A)	ENSP00000360353.2:p.Val395Phe
ENST00000371316.3:c.1629+1214C>A (ACOT11)	ENSP00000360366.3:n.1629+1214C>A
ENST00000481208.5:n.2033C>A (ACOT11)
NM_015547.3:c.1629+1214C>A (ACOT11)	NP_056362.1:n.1629+1214C>A
NM_147161.3:c.*170C>A (ACOT11)	NP_671517.1:n.*170C>A
NM_176782.2:c.1744G>T (FAM151A)	NP_788954.2:p.Val582Phe
XM_006710599.2:c.1666G>T (FAM151A)	XP_006710662.1:p.Val556Phe
XM_006710599.3:c.1666G>T (FAM151A)	XP_006710662.1:p.Val556Phe
NM_176782.3:c.1744G>T (FAM151A) MANE Select	NP_788954.2:p.Val582Phe
NM_015547.4:c.1629+1214C>A (ACOT11)	NP_056362.1:n.1629+1214C>A
NM_147161.4:c.*170C>A (ACOT11) MANE Select	NP_671517.1:n.*170C>A