Canonical Allele Identifier: CA866826

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs772138737
• ExAC: 1:55074942 C / G
• gnomAD v2: 1-55074942-C-G
• gnomAD v3: 1-54609269-C-G
• gnomAD v4: 1-54609269-C-G
• MyVariant Identifiers: chr1:g.55074942C>G (hg19) ; chr1:g.54609269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609269C>G , CM000663.2:g.54609269C>G	GRCh38
NC_000001.10:g.55074942C>G , CM000663.1:g.55074942C>G	GRCh37
NC_000001.9:g.54847530C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1757G>C (FAM151A) MANE Select	ENSP00000306888.2:p.Ter586Ser
ENST00000343744.7:c.*157C>G (ACOT11) MANE Select	ENSP00000340260.2:n.*157C>G
ENST00000302250.6:c.1757G>C (FAM151A)	ENSP00000306888.2:p.Ter586Ser
ENST00000343744.6:c.*157C>G (ACOT11)	ENSP00000340260.2:n.*157C>G
ENST00000371304.2:c.1196G>C (FAM151A)	ENSP00000360353.2:p.Ter399Ser
ENST00000371316.3:c.1629+1201C>G (ACOT11)	ENSP00000360366.3:n.1629+1201C>G
ENST00000481208.5:n.2020C>G (ACOT11)
NM_015547.3:c.1629+1201C>G (ACOT11)	NP_056362.1:n.1629+1201C>G
NM_147161.3:c.*157C>G (ACOT11)	NP_671517.1:n.*157C>G
NM_176782.2:c.1757G>C (FAM151A)	NP_788954.2:p.Ter586Ser
XM_006710599.2:c.1679G>C (FAM151A)	XP_006710662.1:p.Ter560Ser
XM_006710599.3:c.1679G>C (FAM151A)	XP_006710662.1:p.Ter560Ser
NM_176782.3:c.1757G>C (FAM151A) MANE Select	NP_788954.2:p.Ter586Ser
NM_015547.4:c.1629+1201C>G (ACOT11)	NP_056362.1:n.1629+1201C>G
NM_147161.4:c.*157C>G (ACOT11) MANE Select	NP_671517.1:n.*157C>G