Canonical Allele Identifier: CA497694268

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127804A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224485A>T , CM000679.2:g.7224485A>T	GRCh38
NC_000017.10:g.7127804A>T , CM000679.1:g.7127804A>T	GRCh37
NC_000017.9:g.7068528A>T	NCBI36
NG_007975.1:g.9652A>T
NG_008391.2:g.566T>A
NG_033038.1:g.15060T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1611A>T MANE Select	ENSP00000349297.5:p.Val537=
ENST00000322910.9:c.*1566A>T	ENSP00000325395.5:n.*1566A>T
ENST00000350303.9:c.1545A>T	ENSP00000344152.5:p.Val515=
ENST00000356839.9:c.1611A>T	ENSP00000349297.5:p.Val537=
ENST00000542255.6:c.469A>T
ENST00000543245.6:c.1680A>T	ENSP00000438689.2:p.Val560=
ENST00000578319.5:n.192A>T
ENST00000578711.1:n.981A>T
ENST00000578809.5:n.183A>T
ENST00000579391.1:n.215A>T
ENST00000579425.5:n.727A>T
ENST00000579546.1:c.346A>T
ENST00000579894.5:n.398A>T
ENST00000582450.1:n.119A>T
ENST00000583074.5:n.232A>T
ENST00000583850.5:n.382A>T
ENST00000583858.5:c.542A>T
ENST00000585203.6:n.802A>T
NM_000018.3:c.1611A>T	NP_000009.1:p.Val537=
NM_001033859.2:c.1545A>T	NP_001029031.1:p.Val515=
NM_001270447.1:c.1680A>T	NP_001257376.1:p.Val560=
NM_001270448.1:c.1383A>T	NP_001257377.1:p.Val461=
XM_006721516.2:c.1611A>T	XP_006721579.2:p.Val537=
XM_011523829.1:c.1509A>T	XP_011522131.1:p.Val503=
XM_011523830.1:c.1509A>T	XP_011522132.1:p.Val503=
XR_934021.1:n.1714A>T
XR_934022.1:n.1620A>T
XR_934023.1:n.1620A>T
XM_006721516.3:c.1611A>T	XP_006721579.2:p.Val537=
XM_011523829.2:c.1509A>T	XP_011522131.1:p.Val503=
XM_011523830.2:c.1509A>T	XP_011522132.1:p.Val503=
XM_024450741.1:c.1599A>T	XP_024306509.1:p.Val533=
XR_934021.2:n.1666A>T
XR_934022.2:n.1572A>T
XR_934023.2:n.1572A>T
NM_000018.4:c.1611A>T MANE Select	NP_000009.1:p.Val537=
NM_001033859.3:c.1545A>T	NP_001029031.1:p.Val515=
NM_001270447.2:c.1680A>T	NP_001257376.1:p.Val560=
NM_001270448.2:c.1383A>T	NP_001257377.1:p.Val461=