Canonical Allele Identifier: CA340442259

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1569777012
• gnomAD v3: 1-54609666-C-G
• gnomAD v4: 1-54609666-C-G
• MyVariant Identifiers: chr1:g.55075339C>G (hg19) ; chr1:g.54609666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609666C>G , CM000663.2:g.54609666C>G	GRCh38
NC_000001.10:g.55075339C>G , CM000663.1:g.55075339C>G	GRCh37
NC_000001.9:g.54847927C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1360G>C (FAM151A) MANE Select	ENSP00000306888.2:p.Val454Leu
ENST00000343744.7:c.*554C>G (ACOT11) MANE Select	ENSP00000340260.2:n.*554C>G
ENST00000302250.6:c.1360G>C (FAM151A)	ENSP00000306888.2:p.Val454Leu
ENST00000343744.6:c.*554C>G (ACOT11)	ENSP00000340260.2:n.*554C>G
ENST00000371304.2:c.918-119G>C (FAM151A)	ENSP00000360353.2:n.918-119G>C
ENST00000371316.3:c.1629+1598C>G (ACOT11)	ENSP00000360366.3:n.1629+1598C>G
ENST00000481208.5:n.2417C>G (ACOT11)
NM_015547.3:c.1629+1598C>G (ACOT11)	NP_056362.1:n.1629+1598C>G
NM_147161.3:c.*554C>G (ACOT11)	NP_671517.1:n.*554C>G
NM_176782.2:c.1360G>C (FAM151A)	NP_788954.2:p.Val454Leu
XM_006710599.2:c.1282G>C (FAM151A)	XP_006710662.1:p.Val428Leu
XM_006710599.3:c.1282G>C (FAM151A)	XP_006710662.1:p.Val428Leu
NM_176782.3:c.1360G>C (FAM151A) MANE Select	NP_788954.2:p.Val454Leu
NM_015547.4:c.1629+1598C>G (ACOT11)	NP_056362.1:n.1629+1598C>G
NM_147161.4:c.*554C>G (ACOT11) MANE Select	NP_671517.1:n.*554C>G