Canonical Allele Identifier: CA866897

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs757558126
• ExAC: 1:55075228 C / T
• gnomAD v2: 1-55075228-C-T
• gnomAD v3: 1-54609555-C-T
• gnomAD v4: 1-54609555-C-T
• MyVariant Identifiers: chr1:g.55075228C>T (hg19) ; chr1:g.55075228_55075235delinsTCCTGTAG (hg19) ; chr1:g.54609555C>T (hg38) ; chr1:g.54609555_54609562delinsTCCTGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609555C>T , CM000663.2:g.54609555C>T	GRCh38
NC_000001.10:g.55075228C>T , CM000663.1:g.55075228C>T	GRCh37
NC_000001.9:g.54847816C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1471G>A (FAM151A) MANE Select	ENSP00000306888.2:p.Glu491Lys
ENST00000343744.7:c.*443C>T (ACOT11) MANE Select	ENSP00000340260.2:n.*443C>T
ENST00000302250.6:c.1471G>A (FAM151A)	ENSP00000306888.2:p.Glu491Lys
ENST00000343744.6:c.*443C>T (ACOT11)	ENSP00000340260.2:n.*443C>T
ENST00000371304.2:c.918-8G>A (FAM151A)	ENSP00000360353.2:n.918-8G>A
ENST00000371316.3:c.1629+1487C>T (ACOT11)	ENSP00000360366.3:n.1629+1487C>T
ENST00000481208.5:n.2306C>T (ACOT11)
NM_015547.3:c.1629+1487C>T (ACOT11)	NP_056362.1:n.1629+1487C>T
NM_147161.3:c.*443C>T (ACOT11)	NP_671517.1:n.*443C>T
NM_176782.2:c.1471G>A (FAM151A)	NP_788954.2:p.Glu491Lys
XM_006710599.2:c.1393G>A (FAM151A)	XP_006710662.1:p.Glu465Lys
XM_006710599.3:c.1393G>A (FAM151A)	XP_006710662.1:p.Glu465Lys
NM_176782.3:c.1471G>A (FAM151A) MANE Select	NP_788954.2:p.Glu491Lys
NM_015547.4:c.1629+1487C>T (ACOT11)	NP_056362.1:n.1629+1487C>T
NM_147161.4:c.*443C>T (ACOT11) MANE Select	NP_671517.1:n.*443C>T