Canonical Allele Identifier: CA497694317

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127831G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224512G>T , CM000679.2:g.7224512G>T	GRCh38
NC_000017.10:g.7127831G>T , CM000679.1:g.7127831G>T	GRCh37
NC_000017.9:g.7068555G>T	NCBI36
NG_007975.1:g.9679G>T
NG_008391.2:g.539C>A
NG_033038.1:g.15033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1638G>T MANE Select	ENSP00000349297.5:p.Val546=
ENST00000322910.9:c.*1593G>T	ENSP00000325395.5:n.*1593G>T
ENST00000350303.9:c.1572G>T	ENSP00000344152.5:p.Val524=
ENST00000356839.9:c.1638G>T	ENSP00000349297.5:p.Val546=
ENST00000542255.6:c.496G>T
ENST00000543245.6:c.1707G>T	ENSP00000438689.2:p.Val569=
ENST00000578319.5:n.219G>T
ENST00000578711.1:n.1008G>T
ENST00000578809.5:n.210G>T
ENST00000579391.1:n.242G>T
ENST00000579425.5:n.754G>T
ENST00000579546.1:c.373G>T
ENST00000579894.5:n.425G>T
ENST00000582450.1:n.146G>T
ENST00000583074.5:n.259G>T
ENST00000583848.5:c.24G>T	ENSP00000466487.1:p.Val8=
ENST00000583850.5:n.409G>T
ENST00000583858.5:c.569G>T
ENST00000585203.6:n.829G>T
NM_000018.3:c.1638G>T	NP_000009.1:p.Val546=
NM_001033859.2:c.1572G>T	NP_001029031.1:p.Val524=
NM_001270447.1:c.1707G>T	NP_001257376.1:p.Val569=
NM_001270448.1:c.1410G>T	NP_001257377.1:p.Val470=
XM_006721516.2:c.1638G>T	XP_006721579.2:p.Val546=
XM_011523829.1:c.1536G>T	XP_011522131.1:p.Val512=
XM_011523830.1:c.1536G>T	XP_011522132.1:p.Val512=
XR_934021.1:n.1741G>T
XR_934022.1:n.1647G>T
XR_934023.1:n.1647G>T
XM_006721516.3:c.1638G>T	XP_006721579.2:p.Val546=
XM_011523829.2:c.1536G>T	XP_011522131.1:p.Val512=
XM_011523830.2:c.1536G>T	XP_011522132.1:p.Val512=
XM_024450741.1:c.1626G>T	XP_024306509.1:p.Val542=
XR_934021.2:n.1693G>T
XR_934022.2:n.1599G>T
XR_934023.2:n.1599G>T
NM_000018.4:c.1638G>T MANE Select	NP_000009.1:p.Val546=
NM_001033859.3:c.1572G>T	NP_001029031.1:p.Val524=
NM_001270447.2:c.1707G>T	NP_001257376.1:p.Val569=
NM_001270448.2:c.1410G>T	NP_001257377.1:p.Val470=