Canonical Allele Identifier: CA397725519

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127820T>C (hg19) ; chr17:g.7224501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224501T>C , CM000679.2:g.7224501T>C	GRCh38
NC_000017.10:g.7127820T>C , CM000679.1:g.7127820T>C	GRCh37
NC_000017.9:g.7068544T>C	NCBI36
NG_007975.1:g.9668T>C
NG_008391.2:g.550A>G
NG_033038.1:g.15044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1627T>C MANE Select	ENSP00000349297.5:p.Phe543Leu
ENST00000322910.9:c.*1582T>C	ENSP00000325395.5:n.*1582T>C
ENST00000350303.9:c.1561T>C	ENSP00000344152.5:p.Phe521Leu
ENST00000356839.9:c.1627T>C	ENSP00000349297.5:p.Phe543Leu
ENST00000542255.6:c.485T>C
ENST00000543245.6:c.1696T>C	ENSP00000438689.2:p.Phe566Leu
ENST00000578319.5:n.208T>C
ENST00000578711.1:n.997T>C
ENST00000578809.5:n.199T>C
ENST00000579391.1:n.231T>C
ENST00000579425.5:n.743T>C
ENST00000579546.1:c.362T>C
ENST00000579894.5:n.414T>C
ENST00000582450.1:n.135T>C
ENST00000583074.5:n.248T>C
ENST00000583848.5:c.13T>C	ENSP00000466487.1:p.Phe5Leu
ENST00000583850.5:n.398T>C
ENST00000583858.5:c.558T>C
ENST00000585203.6:n.818T>C
NM_000018.3:c.1627T>C	NP_000009.1:p.Phe543Leu
NM_001033859.2:c.1561T>C	NP_001029031.1:p.Phe521Leu
NM_001270447.1:c.1696T>C	NP_001257376.1:p.Phe566Leu
NM_001270448.1:c.1399T>C	NP_001257377.1:p.Phe467Leu
XM_006721516.2:c.1627T>C	XP_006721579.2:p.Phe543Leu
XM_011523829.1:c.1525T>C	XP_011522131.1:p.Phe509Leu
XM_011523830.1:c.1525T>C	XP_011522132.1:p.Phe509Leu
XR_934021.1:n.1730T>C
XR_934022.1:n.1636T>C
XR_934023.1:n.1636T>C
XM_006721516.3:c.1627T>C	XP_006721579.2:p.Phe543Leu
XM_011523829.2:c.1525T>C	XP_011522131.1:p.Phe509Leu
XM_011523830.2:c.1525T>C	XP_011522132.1:p.Phe509Leu
XM_024450741.1:c.1615T>C	XP_024306509.1:p.Phe539Leu
XR_934021.2:n.1682T>C
XR_934022.2:n.1588T>C
XR_934023.2:n.1588T>C
NM_000018.4:c.1627T>C MANE Select	NP_000009.1:p.Phe543Leu
NM_001033859.3:c.1561T>C	NP_001029031.1:p.Phe521Leu
NM_001270447.2:c.1696T>C	NP_001257376.1:p.Phe566Leu
NM_001270448.2:c.1399T>C	NP_001257377.1:p.Phe467Leu