Canonical Allele Identifier: CA397725918

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128178T>G (hg19) ; chr17:g.7224859T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224859T>G , CM000679.2:g.7224859T>G	GRCh38
NC_000017.10:g.7128178T>G , CM000679.1:g.7128178T>G	GRCh37
NC_000017.9:g.7068902T>G	NCBI36
NG_007975.1:g.10026T>G
NG_008391.2:g.192A>C
NG_033038.1:g.14686A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1802T>G MANE Select	ENSP00000349297.5:p.Met601Arg
ENST00000322910.9:c.*1757T>G	ENSP00000325395.5:n.*1757T>G
ENST00000350303.9:c.1736T>G	ENSP00000344152.5:p.Met579Arg
ENST00000356839.9:c.1802T>G	ENSP00000349297.5:p.Met601Arg
ENST00000542255.6:c.681T>G
ENST00000543245.6:c.1871T>G	ENSP00000438689.2:p.Met624Arg
ENST00000578033.1:n.227T>G
ENST00000578319.5:n.383T>G
ENST00000578711.1:n.1355T>G
ENST00000578809.5:n.374T>G
ENST00000579425.5:n.918T>G
ENST00000579546.1:c.537T>G
ENST00000583848.5:c.168T>G	ENSP00000466487.1:n.168T>G
ENST00000583850.5:n.573T>G
ENST00000583858.5:c.733T>G
NM_000018.3:c.1802T>G	NP_000009.1:p.Met601Arg
NM_001033859.2:c.1736T>G	NP_001029031.1:p.Met579Arg
NM_001270447.1:c.1871T>G	NP_001257376.1:p.Met624Arg
NM_001270448.1:c.1574T>G	NP_001257377.1:p.Met525Arg
XM_006721516.2:c.1823T>G	XP_006721579.2:p.Met608Arg
XM_011523829.1:c.1721T>G	XP_011522131.1:p.Met574Arg
XM_011523830.1:c.1700T>G	XP_011522132.1:p.Met567Arg
XR_934021.1:n.1905T>G
XR_934022.1:n.1811T>G
XR_934023.1:n.1832T>G
XM_006721516.3:c.1823T>G	XP_006721579.2:p.Met608Arg
XM_011523829.2:c.1721T>G	XP_011522131.1:p.Met574Arg
XM_011523830.2:c.1700T>G	XP_011522132.1:p.Met567Arg
XM_024450741.1:c.1790T>G	XP_024306509.1:p.Met597Arg
XR_934021.2:n.1857T>G
XR_934022.2:n.1763T>G
XR_934023.2:n.1784T>G
NM_000018.4:c.1802T>G MANE Select	NP_000009.1:p.Met601Arg
NM_001033859.3:c.1736T>G	NP_001029031.1:p.Met579Arg
NM_001270447.2:c.1871T>G	NP_001257376.1:p.Met624Arg
NM_001270448.2:c.1574T>G	NP_001257377.1:p.Met525Arg