Canonical Allele Identifier: CA340442217

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs2101011862
• gnomAD v4: 1-54609653-A-G
• MyVariant Identifiers: chr1:g.55075326A>G (hg19) ; chr1:g.54609653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609653A>G , CM000663.2:g.54609653A>G	GRCh38
NC_000001.10:g.55075326A>G , CM000663.1:g.55075326A>G	GRCh37
NC_000001.9:g.54847914A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1373T>C (FAM151A) MANE Select	ENSP00000306888.2:p.Val458Ala
ENST00000343744.7:c.*541A>G (ACOT11) MANE Select	ENSP00000340260.2:n.*541A>G
ENST00000302250.6:c.1373T>C (FAM151A)	ENSP00000306888.2:p.Val458Ala
ENST00000343744.6:c.*541A>G (ACOT11)	ENSP00000340260.2:n.*541A>G
ENST00000371304.2:c.918-106T>C (FAM151A)	ENSP00000360353.2:n.918-106T>C
ENST00000371316.3:c.1629+1585A>G (ACOT11)	ENSP00000360366.3:n.1629+1585A>G
ENST00000481208.5:n.2404A>G (ACOT11)
NM_015547.3:c.1629+1585A>G (ACOT11)	NP_056362.1:n.1629+1585A>G
NM_147161.3:c.*541A>G (ACOT11)	NP_671517.1:n.*541A>G
NM_176782.2:c.1373T>C (FAM151A)	NP_788954.2:p.Val458Ala
XM_006710599.2:c.1295T>C (FAM151A)	XP_006710662.1:p.Val432Ala
XM_006710599.3:c.1295T>C (FAM151A)	XP_006710662.1:p.Val432Ala
NM_176782.3:c.1373T>C (FAM151A) MANE Select	NP_788954.2:p.Val458Ala
NM_015547.4:c.1629+1585A>G (ACOT11)	NP_056362.1:n.1629+1585A>G
NM_147161.4:c.*541A>G (ACOT11) MANE Select	NP_671517.1:n.*541A>G