Canonical Allele Identifier: CA340440776

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609301-G-C
• MyVariant Identifiers: chr1:g.55074974G>C (hg19) ; chr1:g.54609301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609301G>C , CM000663.2:g.54609301G>C	GRCh38
NC_000001.10:g.55074974G>C , CM000663.1:g.55074974G>C	GRCh37
NC_000001.9:g.54847562G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1725C>G (FAM151A) MANE Select	ENSP00000306888.2:p.His575Gln
ENST00000343744.7:c.*189G>C (ACOT11) MANE Select	ENSP00000340260.2:n.*189G>C
ENST00000302250.6:c.1725C>G (FAM151A)	ENSP00000306888.2:p.His575Gln
ENST00000343744.6:c.*189G>C (ACOT11)	ENSP00000340260.2:n.*189G>C
ENST00000371304.2:c.1164C>G (FAM151A)	ENSP00000360353.2:p.His388Gln
ENST00000371316.3:c.1629+1233G>C (ACOT11)	ENSP00000360366.3:n.1629+1233G>C
ENST00000481208.5:n.2052G>C (ACOT11)
NM_015547.3:c.1629+1233G>C (ACOT11)	NP_056362.1:n.1629+1233G>C
NM_147161.3:c.*189G>C (ACOT11)	NP_671517.1:n.*189G>C
NM_176782.2:c.1725C>G (FAM151A)	NP_788954.2:p.His575Gln
XM_006710599.2:c.1647C>G (FAM151A)	XP_006710662.1:p.His549Gln
XM_006710599.3:c.1647C>G (FAM151A)	XP_006710662.1:p.His549Gln
NM_176782.3:c.1725C>G (FAM151A) MANE Select	NP_788954.2:p.His575Gln
NM_015547.4:c.1629+1233G>C (ACOT11)	NP_056362.1:n.1629+1233G>C
NM_147161.4:c.*189G>C (ACOT11) MANE Select	NP_671517.1:n.*189G>C