Canonical Allele Identifier: CA497694446

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127676A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224357A>T , CM000679.2:g.7224357A>T	GRCh38
NC_000017.10:g.7127676A>T , CM000679.1:g.7127676A>T	GRCh37
NC_000017.9:g.7068400A>T	NCBI36
NG_007975.1:g.9524A>T
NG_008391.2:g.694T>A
NG_033038.1:g.15188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1569A>T MANE Select	ENSP00000349297.5:p.Gly523=
ENST00000322910.9:c.*1524A>T	ENSP00000325395.5:n.*1524A>T
ENST00000350303.9:c.1503A>T	ENSP00000344152.5:p.Gly501=
ENST00000356839.9:c.1569A>T	ENSP00000349297.5:p.Gly523=
ENST00000542255.6:c.427A>T
ENST00000543245.6:c.1638A>T	ENSP00000438689.2:p.Gly546=
ENST00000578319.5:n.64A>T
ENST00000578711.1:n.853A>T
ENST00000578809.5:n.141A>T
ENST00000579391.1:n.177A>T
ENST00000579425.5:n.685A>T
ENST00000579546.1:c.308A>T
ENST00000579894.5:n.356A>T
ENST00000582450.1:n.77A>T
ENST00000583074.5:n.190A>T
ENST00000583850.5:n.344A>T
ENST00000583858.5:c.500A>T
ENST00000585203.6:n.760A>T
NM_000018.3:c.1569A>T	NP_000009.1:p.Gly523=
NM_001033859.2:c.1503A>T	NP_001029031.1:p.Gly501=
NM_001270447.1:c.1638A>T	NP_001257376.1:p.Gly546=
NM_001270448.1:c.1341A>T	NP_001257377.1:p.Gly447=
XM_006721516.2:c.1569A>T	XP_006721579.2:p.Gly523=
XM_011523829.1:c.1471A>T	XP_011522131.1:p.Thr491Ser
XM_011523830.1:c.1471A>T	XP_011522132.1:p.Thr491Ser
XR_934021.1:n.1676A>T
XR_934022.1:n.1578A>T
XR_934023.1:n.1578A>T
XM_006721516.3:c.1569A>T	XP_006721579.2:p.Gly523=
XM_011523829.2:c.1471A>T	XP_011522131.1:p.Thr491Ser
XM_011523830.2:c.1471A>T	XP_011522132.1:p.Thr491Ser
XM_024450741.1:c.1471A>T	XP_024306509.1:p.Thr491Ser
XR_934021.2:n.1628A>T
XR_934022.2:n.1530A>T
XR_934023.2:n.1530A>T
NM_000018.4:c.1569A>T MANE Select	NP_000009.1:p.Gly523=
NM_001033859.3:c.1503A>T	NP_001029031.1:p.Gly501=
NM_001270447.2:c.1638A>T	NP_001257376.1:p.Gly546=
NM_001270448.2:c.1341A>T	NP_001257377.1:p.Gly447=