Canonical Allele Identifier: CA418177249
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Linked Data

gnomAD v4: 1-54609333-G-T
MyVariant Identifiers: chr1:g.55075006G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609333G>T , CM000663.2:g.54609333G>T GRCh38
NC_000001.10:g.55075006G>T , CM000663.1:g.55075006G>T GRCh37
NC_000001.9:g.54847594G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1693C>A (FAM151A) MANE Select ENSP00000306888.2:p.Arg565=
ENST00000343744.7:c.*221G>T (ACOT11) MANE Select ENSP00000340260.2:n.*221G>T
ENST00000302250.6:c.1693C>A (FAM151A) ENSP00000306888.2:p.Arg565=
ENST00000343744.6:c.*221G>T (ACOT11) ENSP00000340260.2:n.*221G>T
ENST00000371304.2:c.1132C>A (FAM151A) ENSP00000360353.2:p.Arg378=
ENST00000371316.3:c.1629+1265G>T (ACOT11) ENSP00000360366.3:n.1629+1265G>T
ENST00000481208.5:n.2084G>T (ACOT11)
NM_015547.3:c.1629+1265G>T (ACOT11) NP_056362.1:n.1629+1265G>T
NM_147161.3:c.*221G>T (ACOT11) NP_671517.1:n.*221G>T
NM_176782.2:c.1693C>A (FAM151A) NP_788954.2:p.Arg565=
XM_006710599.2:c.1615C>A (FAM151A) XP_006710662.1:p.Arg539=
XM_006710599.3:c.1615C>A (FAM151A) XP_006710662.1:p.Arg539=
NM_176782.3:c.1693C>A (FAM151A) MANE Select NP_788954.2:p.Arg565=
NM_015547.4:c.1629+1265G>T (ACOT11) NP_056362.1:n.1629+1265G>T
NM_147161.4:c.*221G>T (ACOT11) MANE Select NP_671517.1:n.*221G>T