Canonical Allele Identifier: CA418177340
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Linked Data

gnomAD v4: 1-54609718-G-A
MyVariant Identifiers: chr1:g.55075391G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609718G>A , CM000663.2:g.54609718G>A GRCh38
NC_000001.10:g.55075391G>A , CM000663.1:g.55075391G>A GRCh37
NC_000001.9:g.54847979G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1308C>T (FAM151A) MANE Select ENSP00000306888.2:p.Leu436=
ENST00000343744.7:c.*606G>A (ACOT11) MANE Select ENSP00000340260.2:n.*606G>A
ENST00000302250.6:c.1308C>T (FAM151A) ENSP00000306888.2:p.Leu436=
ENST00000343744.6:c.*606G>A (ACOT11) ENSP00000340260.2:n.*606G>A
ENST00000371304.2:c.918-171C>T (FAM151A) ENSP00000360353.2:n.918-171C>T
ENST00000371316.3:c.1629+1650G>A (ACOT11) ENSP00000360366.3:n.1629+1650G>A
ENST00000481208.5:n.2469G>A (ACOT11)
NM_015547.3:c.1629+1650G>A (ACOT11) NP_056362.1:n.1629+1650G>A
NM_147161.3:c.*606G>A (ACOT11) NP_671517.1:n.*606G>A
NM_176782.2:c.1308C>T (FAM151A) NP_788954.2:p.Leu436=
XM_006710599.2:c.1230C>T (FAM151A) XP_006710662.1:p.Leu410=
XM_006710599.3:c.1230C>T (FAM151A) XP_006710662.1:p.Leu410=
NM_176782.3:c.1308C>T (FAM151A) MANE Select NP_788954.2:p.Leu436=
NM_015547.4:c.1629+1650G>A (ACOT11) NP_056362.1:n.1629+1650G>A
NM_147161.4:c.*606G>A (ACOT11) MANE Select NP_671517.1:n.*606G>A