Canonical Allele Identifier: CA866929

Gene: FAM151A ACOT11

Linked Data

• ClinVar Variation Id: 2407710
• ClinVar RCV Id: RCV004239998
• dbSNP Id: rs532834434
• ExAC: 1:55075362 T / C
• gnomAD v2: 1-55075362-T-C
• gnomAD v3: 1-54609689-T-C
• gnomAD v4: 1-54609689-T-C
• MyVariant Identifiers: chr1:g.55075362T>C (hg19) ; chr1:g.54609689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609689T>C , CM000663.2:g.54609689T>C	GRCh38
NC_000001.10:g.55075362T>C , CM000663.1:g.55075362T>C	GRCh37
NC_000001.9:g.54847950T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1337A>G (FAM151A) MANE Select	ENSP00000306888.2:p.Lys446Arg
ENST00000343744.7:c.*577T>C (ACOT11) MANE Select	ENSP00000340260.2:n.*577T>C
ENST00000302250.6:c.1337A>G (FAM151A)	ENSP00000306888.2:p.Lys446Arg
ENST00000343744.6:c.*577T>C (ACOT11)	ENSP00000340260.2:n.*577T>C
ENST00000371304.2:c.918-142A>G (FAM151A)	ENSP00000360353.2:n.918-142A>G
ENST00000371316.3:c.1629+1621T>C (ACOT11)	ENSP00000360366.3:n.1629+1621T>C
ENST00000481208.5:n.2440T>C (ACOT11)
NM_015547.3:c.1629+1621T>C (ACOT11)	NP_056362.1:n.1629+1621T>C
NM_147161.3:c.*577T>C (ACOT11)	NP_671517.1:n.*577T>C
NM_176782.2:c.1337A>G (FAM151A)	NP_788954.2:p.Lys446Arg
XM_006710599.2:c.1259A>G (FAM151A)	XP_006710662.1:p.Lys420Arg
XM_006710599.3:c.1259A>G (FAM151A)	XP_006710662.1:p.Lys420Arg
NM_176782.3:c.1337A>G (FAM151A) MANE Select	NP_788954.2:p.Lys446Arg
NM_015547.4:c.1629+1621T>C (ACOT11)	NP_056362.1:n.1629+1621T>C
NM_147161.4:c.*577T>C (ACOT11) MANE Select	NP_671517.1:n.*577T>C