Canonical Allele Identifier: CA418177297

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1357860364
• gnomAD v2: 1-55075067-A-G
• gnomAD v4: 1-54609394-A-G
• MyVariant Identifiers: chr1:g.55075067A>G (hg19) ; chr1:g.54609394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609394A>G , CM000663.2:g.54609394A>G	GRCh38
NC_000001.10:g.55075067A>G , CM000663.1:g.55075067A>G	GRCh37
NC_000001.9:g.54847655A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000302250.7:c.1632T>C (FAM151A) MANE Select	ENSP00000306888.2:p.Ala544=
ENST00000343744.7:c.*282A>G (ACOT11) MANE Select	ENSP00000340260.2:n.*282A>G
ENST00000302250.6:c.1632T>C (FAM151A)	ENSP00000306888.2:p.Ala544=
ENST00000343744.6:c.*282A>G (ACOT11)	ENSP00000340260.2:n.*282A>G
ENST00000371304.2:c.1071T>C (FAM151A)	ENSP00000360353.2:p.Ala357=
ENST00000371316.3:c.1629+1326A>G (ACOT11)	ENSP00000360366.3:n.1629+1326A>G
ENST00000481208.5:n.2145A>G (ACOT11)
NM_015547.3:c.1629+1326A>G (ACOT11)	NP_056362.1:n.1629+1326A>G
NM_147161.3:c.*282A>G (ACOT11)	NP_671517.1:n.*282A>G
NM_176782.2:c.1632T>C (FAM151A)	NP_788954.2:p.Ala544=
XM_006710599.2:c.1554T>C (FAM151A)	XP_006710662.1:p.Ala518=
XM_006710599.3:c.1554T>C (FAM151A)	XP_006710662.1:p.Ala518=
NM_176782.3:c.1632T>C (FAM151A) MANE Select	NP_788954.2:p.Ala544=
NM_015547.4:c.1629+1326A>G (ACOT11)	NP_056362.1:n.1629+1326A>G
NM_147161.4:c.*282A>G (ACOT11) MANE Select	NP_671517.1:n.*282A>G