Canonical Allele Identifier: CA340442130

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1242587629
• gnomAD v2: 1-55075299-A-T
• gnomAD v4: 1-54609626-A-T
• MyVariant Identifiers: chr1:g.55075299A>T (hg19) ; chr1:g.54609626A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609626A>T , CM000663.2:g.54609626A>T	GRCh38
NC_000001.10:g.55075299A>T , CM000663.1:g.55075299A>T	GRCh37
NC_000001.9:g.54847887A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1400T>A (FAM151A) MANE Select	ENSP00000306888.2:p.Val467Glu
ENST00000343744.7:c.*514A>T (ACOT11) MANE Select	ENSP00000340260.2:n.*514A>T
ENST00000302250.6:c.1400T>A (FAM151A)	ENSP00000306888.2:p.Val467Glu
ENST00000343744.6:c.*514A>T (ACOT11)	ENSP00000340260.2:n.*514A>T
ENST00000371304.2:c.918-79T>A (FAM151A)	ENSP00000360353.2:n.918-79T>A
ENST00000371316.3:c.1629+1558A>T (ACOT11)	ENSP00000360366.3:n.1629+1558A>T
ENST00000481208.5:n.2377A>T (ACOT11)
NM_015547.3:c.1629+1558A>T (ACOT11)	NP_056362.1:n.1629+1558A>T
NM_147161.3:c.*514A>T (ACOT11)	NP_671517.1:n.*514A>T
NM_176782.2:c.1400T>A (FAM151A)	NP_788954.2:p.Val467Glu
XM_006710599.2:c.1322T>A (FAM151A)	XP_006710662.1:p.Val441Glu
XM_006710599.3:c.1322T>A (FAM151A)	XP_006710662.1:p.Val441Glu
NM_176782.3:c.1400T>A (FAM151A) MANE Select	NP_788954.2:p.Val467Glu
NM_015547.4:c.1629+1558A>T (ACOT11)	NP_056362.1:n.1629+1558A>T
NM_147161.4:c.*514A>T (ACOT11) MANE Select	NP_671517.1:n.*514A>T