Canonical Allele Identifier: CA340441872

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1395826909
• gnomAD v2: 1-55075225-G-C
• gnomAD v3: 1-54609552-G-C
• gnomAD v4: 1-54609552-G-C
• MyVariant Identifiers: chr1:g.55075225G>C (hg19) ; chr1:g.54609552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609552G>C , CM000663.2:g.54609552G>C	GRCh38
NC_000001.10:g.55075225G>C , CM000663.1:g.55075225G>C	GRCh37
NC_000001.9:g.54847813G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1474C>G (FAM151A) MANE Select	ENSP00000306888.2:p.Gln492Glu
ENST00000343744.7:c.*440G>C (ACOT11) MANE Select	ENSP00000340260.2:n.*440G>C
ENST00000302250.6:c.1474C>G (FAM151A)	ENSP00000306888.2:p.Gln492Glu
ENST00000343744.6:c.*440G>C (ACOT11)	ENSP00000340260.2:n.*440G>C
ENST00000371304.2:c.918-5C>G (FAM151A)	ENSP00000360353.2:n.918-5C>G
ENST00000371316.3:c.1629+1484G>C (ACOT11)	ENSP00000360366.3:n.1629+1484G>C
ENST00000481208.5:n.2303G>C (ACOT11)
NM_015547.3:c.1629+1484G>C (ACOT11)	NP_056362.1:n.1629+1484G>C
NM_147161.3:c.*440G>C (ACOT11)	NP_671517.1:n.*440G>C
NM_176782.2:c.1474C>G (FAM151A)	NP_788954.2:p.Gln492Glu
XM_006710599.2:c.1396C>G (FAM151A)	XP_006710662.1:p.Gln466Glu
XM_006710599.3:c.1396C>G (FAM151A)	XP_006710662.1:p.Gln466Glu
NM_176782.3:c.1474C>G (FAM151A) MANE Select	NP_788954.2:p.Gln492Glu
NM_015547.4:c.1629+1484G>C (ACOT11)	NP_056362.1:n.1629+1484G>C
NM_147161.4:c.*440G>C (ACOT11) MANE Select	NP_671517.1:n.*440G>C