Canonical Allele Identifier: CA866934

Gene: FAM151A ACOT11

Linked Data

• ClinVar Variation Id: 2222005
• ClinVar RCV Id: RCV004084101
• dbSNP Id: rs200917491
• ExAC: 1:55075386 T / G
• gnomAD v2: 1-55075386-T-G
• gnomAD v3: 1-54609713-T-G
• gnomAD v4: 1-54609713-T-G
• MyVariant Identifiers: chr1:g.55075386T>G (hg19) ; chr1:g.55075386_55075399delinsGGCAAGAGGCCAAG (hg19) ; chr1:g.54609713T>G (hg38) ; chr1:g.54609713_54609726delinsGGCAAGAGGCCAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609713T>G , CM000663.2:g.54609713T>G	GRCh38
NC_000001.10:g.55075386T>G , CM000663.1:g.55075386T>G	GRCh37
NC_000001.9:g.54847974T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1313A>C (FAM151A) MANE Select	ENSP00000306888.2:p.His438Pro
ENST00000343744.7:c.*601T>G (ACOT11) MANE Select	ENSP00000340260.2:n.*601T>G
ENST00000302250.6:c.1313A>C (FAM151A)	ENSP00000306888.2:p.His438Pro
ENST00000343744.6:c.*601T>G (ACOT11)	ENSP00000340260.2:n.*601T>G
ENST00000371304.2:c.918-166A>C (FAM151A)	ENSP00000360353.2:n.918-166A>C
ENST00000371316.3:c.1629+1645T>G (ACOT11)	ENSP00000360366.3:n.1629+1645T>G
ENST00000481208.5:n.2464T>G (ACOT11)
NM_015547.3:c.1629+1645T>G (ACOT11)	NP_056362.1:n.1629+1645T>G
NM_147161.3:c.*601T>G (ACOT11)	NP_671517.1:n.*601T>G
NM_176782.2:c.1313A>C (FAM151A)	NP_788954.2:p.His438Pro
XM_006710599.2:c.1235A>C (FAM151A)	XP_006710662.1:p.His412Pro
XM_006710599.3:c.1235A>C (FAM151A)	XP_006710662.1:p.His412Pro
NM_176782.3:c.1313A>C (FAM151A) MANE Select	NP_788954.2:p.His438Pro
NM_015547.4:c.1629+1645T>G (ACOT11)	NP_056362.1:n.1629+1645T>G
NM_147161.4:c.*601T>G (ACOT11) MANE Select	NP_671517.1:n.*601T>G