Canonical Allele Identifier: CA397725915

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128177A>T (hg19) ; chr17:g.7224858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224858A>T , CM000679.2:g.7224858A>T	GRCh38
NC_000017.10:g.7128177A>T , CM000679.1:g.7128177A>T	GRCh37
NC_000017.9:g.7068901A>T	NCBI36
NG_007975.1:g.10025A>T
NG_008391.2:g.193T>A
NG_033038.1:g.14687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1801A>T MANE Select	ENSP00000349297.5:p.Met601Leu
ENST00000322910.9:c.*1756A>T	ENSP00000325395.5:n.*1756A>T
ENST00000350303.9:c.1735A>T	ENSP00000344152.5:p.Met579Leu
ENST00000356839.9:c.1801A>T	ENSP00000349297.5:p.Met601Leu
ENST00000542255.6:c.680A>T
ENST00000543245.6:c.1870A>T	ENSP00000438689.2:p.Met624Leu
ENST00000578033.1:n.226A>T
ENST00000578319.5:n.382A>T
ENST00000578711.1:n.1354A>T
ENST00000578809.5:n.373A>T
ENST00000579425.5:n.917A>T
ENST00000579546.1:c.536A>T
ENST00000583848.5:c.167A>T	ENSP00000466487.1:n.167A>T
ENST00000583850.5:n.572A>T
ENST00000583858.5:c.732A>T
NM_000018.3:c.1801A>T	NP_000009.1:p.Met601Leu
NM_001033859.2:c.1735A>T	NP_001029031.1:p.Met579Leu
NM_001270447.1:c.1870A>T	NP_001257376.1:p.Met624Leu
NM_001270448.1:c.1573A>T	NP_001257377.1:p.Met525Leu
XM_006721516.2:c.1822A>T	XP_006721579.2:p.Met608Leu
XM_011523829.1:c.1720A>T	XP_011522131.1:p.Met574Leu
XM_011523830.1:c.1699A>T	XP_011522132.1:p.Met567Leu
XR_934021.1:n.1904A>T
XR_934022.1:n.1810A>T
XR_934023.1:n.1831A>T
XM_006721516.3:c.1822A>T	XP_006721579.2:p.Met608Leu
XM_011523829.2:c.1720A>T	XP_011522131.1:p.Met574Leu
XM_011523830.2:c.1699A>T	XP_011522132.1:p.Met567Leu
XM_024450741.1:c.1789A>T	XP_024306509.1:p.Met597Leu
XR_934021.2:n.1856A>T
XR_934022.2:n.1762A>T
XR_934023.2:n.1783A>T
NM_000018.4:c.1801A>T MANE Select	NP_000009.1:p.Met601Leu
NM_001033859.3:c.1735A>T	NP_001029031.1:p.Met579Leu
NM_001270447.2:c.1870A>T	NP_001257376.1:p.Met624Leu
NM_001270448.2:c.1573A>T	NP_001257377.1:p.Met525Leu