Canonical Allele Identifier: CA397723595

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7222077-A-T
• MyVariant Identifiers: chr17:g.7125396A>T (hg19) ; chr17:g.7222077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222077A>T , CM000679.2:g.7222077A>T	GRCh38
NC_000017.10:g.7125396A>T , CM000679.1:g.7125396A>T	GRCh37
NC_000017.9:g.7066120A>T	NCBI36
NG_007975.1:g.7244A>T
NG_008391.2:g.2974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.748A>T MANE Select	ENSP00000349297.5:p.Ile250Phe
ENST00000322910.9:c.*703A>T	ENSP00000325395.5:n.*703A>T
ENST00000350303.9:c.682A>T	ENSP00000344152.5:p.Ile228Phe
ENST00000356839.9:c.748A>T	ENSP00000349297.5:p.Ile250Phe
ENST00000543245.6:c.817A>T	ENSP00000438689.2:p.Ile273Phe
ENST00000577191.5:n.825A>T
ENST00000577857.5:n.564A>T
ENST00000579286.5:n.929A>T
ENST00000580365.1:n.479A>T
ENST00000581378.5:c.466A>T
ENST00000582379.1:n.132A>T
ENST00000583760.1:n.530A>T
NM_000018.3:c.748A>T	NP_000009.1:p.Ile250Phe
NM_001033859.2:c.682A>T	NP_001029031.1:p.Ile228Phe
NM_001270447.1:c.817A>T	NP_001257376.1:p.Ile273Phe
NM_001270448.1:c.520A>T	NP_001257377.1:p.Ile174Phe
XM_006721516.2:c.748A>T	XP_006721579.2:p.Ile250Phe
XM_011523829.1:c.748A>T	XP_011522131.1:p.Ile250Phe
XM_011523830.1:c.748A>T	XP_011522132.1:p.Ile250Phe
XR_934021.1:n.855A>T
XR_934022.1:n.855A>T
XR_934023.1:n.855A>T
XM_006721516.3:c.748A>T	XP_006721579.2:p.Ile250Phe
XM_011523829.2:c.748A>T	XP_011522131.1:p.Ile250Phe
XM_011523830.2:c.748A>T	XP_011522132.1:p.Ile250Phe
XM_024450741.1:c.748A>T	XP_024306509.1:p.Ile250Phe
XR_934021.2:n.807A>T
XR_934022.2:n.807A>T
XR_934023.2:n.807A>T
NM_000018.4:c.748A>T MANE Select	NP_000009.1:p.Ile250Phe
NM_001033859.3:c.682A>T	NP_001029031.1:p.Ile228Phe
NM_001270447.2:c.817A>T	NP_001257376.1:p.Ile273Phe
NM_001270448.2:c.520A>T	NP_001257377.1:p.Ile174Phe