Canonical Allele Identifier: CA418177354

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs141833986
• gnomAD v2: 1-55075091-G-T
• gnomAD v3: 1-54609418-G-T
• gnomAD v4: 1-54609418-G-T
• COSMIC: COSM381233
• MyVariant Identifiers: chr1:g.55075091G>T (hg19) ; chr1:g.54609418G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609418G>T , CM000663.2:g.54609418G>T	GRCh38
NC_000001.10:g.55075091G>T , CM000663.1:g.55075091G>T	GRCh37
NC_000001.9:g.54847679G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1608C>A (FAM151A) MANE Select	ENSP00000306888.2:p.Thr536=
ENST00000343744.7:c.*306G>T (ACOT11) MANE Select	ENSP00000340260.2:n.*306G>T
ENST00000302250.6:c.1608C>A (FAM151A)	ENSP00000306888.2:p.Thr536=
ENST00000343744.6:c.*306G>T (ACOT11)	ENSP00000340260.2:n.*306G>T
ENST00000371304.2:c.1047C>A (FAM151A)	ENSP00000360353.2:p.Thr349=
ENST00000371316.3:c.1629+1350G>T (ACOT11)	ENSP00000360366.3:n.1629+1350G>T
ENST00000481208.5:n.2169G>T (ACOT11)
NM_015547.3:c.1629+1350G>T (ACOT11)	NP_056362.1:n.1629+1350G>T
NM_147161.3:c.*306G>T (ACOT11)	NP_671517.1:n.*306G>T
NM_176782.2:c.1608C>A (FAM151A)	NP_788954.2:p.Thr536=
XM_006710599.2:c.1530C>A (FAM151A)	XP_006710662.1:p.Thr510=
XM_006710599.3:c.1530C>A (FAM151A)	XP_006710662.1:p.Thr510=
NM_176782.3:c.1608C>A (FAM151A) MANE Select	NP_788954.2:p.Thr536=
NM_015547.4:c.1629+1350G>T (ACOT11)	NP_056362.1:n.1629+1350G>T
NM_147161.4:c.*306G>T (ACOT11) MANE Select	NP_671517.1:n.*306G>T