Canonical Allele Identifier: CA497694281

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128025T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224706T>C , CM000679.2:g.7224706T>C	GRCh38
NC_000017.10:g.7128025T>C , CM000679.1:g.7128025T>C	GRCh37
NC_000017.9:g.7068749T>C	NCBI36
NG_007975.1:g.9873T>C
NG_008391.2:g.345A>G
NG_033038.1:g.14839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1743T>C MANE Select	ENSP00000349297.5:p.Val581=
ENST00000322910.9:c.*1698T>C	ENSP00000325395.5:n.*1698T>C
ENST00000350303.9:c.1677T>C	ENSP00000344152.5:p.Val559=
ENST00000356839.9:c.1743T>C	ENSP00000349297.5:p.Val581=
ENST00000542255.6:c.537-9T>C
ENST00000543245.6:c.1812T>C	ENSP00000438689.2:p.Val604=
ENST00000578033.1:n.74T>C
ENST00000578319.5:n.324T>C
ENST00000578711.1:n.1202T>C
ENST00000578809.5:n.315T>C
ENST00000579425.5:n.859T>C
ENST00000579546.1:c.478T>C
ENST00000583074.5:n.300-9T>C
ENST00000583848.5:c.109T>C	ENSP00000466487.1:p.Ser37Pro
ENST00000583850.5:n.514T>C
ENST00000583858.5:c.674T>C
ENST00000585203.6:n.934T>C
NM_000018.3:c.1743T>C	NP_000009.1:p.Val581=
NM_001033859.2:c.1677T>C	NP_001029031.1:p.Val559=
NM_001270447.1:c.1812T>C	NP_001257376.1:p.Val604=
NM_001270448.1:c.1515T>C	NP_001257377.1:p.Val505=
XM_006721516.2:c.1679-9T>C	XP_006721579.2:n.1679-9T>C
XM_011523829.1:c.1577-9T>C	XP_011522131.1:n.1577-9T>C
XM_011523830.1:c.1641T>C	XP_011522132.1:p.Val547=
XR_934021.1:n.1846T>C
XR_934022.1:n.1752T>C
XR_934023.1:n.1688-9T>C
XM_006721516.3:c.1679-9T>C	XP_006721579.2:n.1679-9T>C
XM_011523829.2:c.1577-9T>C	XP_011522131.1:n.1577-9T>C
XM_011523830.2:c.1641T>C	XP_011522132.1:p.Val547=
XM_024450741.1:c.1731T>C	XP_024306509.1:p.Val577=
XR_934021.2:n.1798T>C
XR_934022.2:n.1704T>C
XR_934023.2:n.1640-9T>C
NM_000018.4:c.1743T>C MANE Select	NP_000009.1:p.Val581=
NM_001033859.3:c.1677T>C	NP_001029031.1:p.Val559=
NM_001270447.2:c.1812T>C	NP_001257376.1:p.Val604=
NM_001270448.2:c.1515T>C	NP_001257377.1:p.Val505=