Canonical Allele Identifier: CA397723749
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222239-C-T
MyVariant Identifiers: chr17:g.7125558C>T (hg19) chr17:g.7222239C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222239C>T , CM000679.2:g.7222239C>T GRCh38
NC_000017.10:g.7125558C>T , CM000679.1:g.7125558C>T GRCh37
NC_000017.9:g.7066282C>T NCBI36
NG_007975.1:g.7406C>T
NG_008391.2:g.2812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.815C>T MANE Select ENSP00000349297.5:p.Thr272Ile
ENST00000322910.9:c.*770C>T ENSP00000325395.5:n.*770C>T
ENST00000350303.9:c.749C>T ENSP00000344152.5:p.Thr250Ile
ENST00000356839.9:c.815C>T ENSP00000349297.5:p.Thr272Ile
ENST00000543245.6:c.884C>T ENSP00000438689.2:p.Thr295Ile
ENST00000577191.5:n.987C>T
ENST00000581378.5:c.533C>T
ENST00000582379.1:n.199C>T
NM_000018.3:c.815C>T NP_000009.1:p.Thr272Ile
NM_001033859.2:c.749C>T NP_001029031.1:p.Thr250Ile
NM_001270447.1:c.884C>T NP_001257376.1:p.Thr295Ile
NM_001270448.1:c.587C>T NP_001257377.1:p.Thr196Ile
XM_006721516.2:c.815C>T XP_006721579.2:p.Thr272Ile
XM_011523829.1:c.815C>T XP_011522131.1:p.Thr272Ile
XM_011523830.1:c.815C>T XP_011522132.1:p.Thr272Ile
XR_934021.1:n.922C>T
XR_934022.1:n.922C>T
XR_934023.1:n.922C>T
XM_006721516.3:c.815C>T XP_006721579.2:p.Thr272Ile
XM_011523829.2:c.815C>T XP_011522131.1:p.Thr272Ile
XM_011523830.2:c.815C>T XP_011522132.1:p.Thr272Ile
XM_024450741.1:c.815C>T XP_024306509.1:p.Thr272Ile
XR_934021.2:n.874C>T
XR_934022.2:n.874C>T
XR_934023.2:n.874C>T
NM_000018.4:c.815C>T MANE Select NP_000009.1:p.Thr272Ile
NM_001033859.3:c.749C>T NP_001029031.1:p.Thr250Ile
NM_001270447.2:c.884C>T NP_001257376.1:p.Thr295Ile
NM_001270448.2:c.587C>T NP_001257377.1:p.Thr196Ile
Search 100 bp 5'
Search 100 bp 3'