Canonical Allele Identifier: CA497694428

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127971T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224652T>C , CM000679.2:g.7224652T>C	GRCh38
NC_000017.10:g.7127971T>C , CM000679.1:g.7127971T>C	GRCh37
NC_000017.9:g.7068695T>C	NCBI36
NG_007975.1:g.9819T>C
NG_008391.2:g.399A>G
NG_033038.1:g.14893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1689T>C MANE Select	ENSP00000349297.5:p.Phe563=
ENST00000322910.9:c.*1644T>C	ENSP00000325395.5:n.*1644T>C
ENST00000350303.9:c.1623T>C	ENSP00000344152.5:p.Phe541=
ENST00000356839.9:c.1689T>C	ENSP00000349297.5:p.Phe563=
ENST00000542255.6:c.537-63T>C
ENST00000543245.6:c.1758T>C	ENSP00000438689.2:p.Phe586=
ENST00000578033.1:n.20T>C
ENST00000578319.5:n.270T>C
ENST00000578711.1:n.1148T>C
ENST00000578809.5:n.261T>C
ENST00000579425.5:n.805T>C
ENST00000579546.1:c.424T>C
ENST00000582450.1:n.286T>C
ENST00000583074.5:n.300-63T>C
ENST00000583848.5:c.65-10T>C	ENSP00000466487.1:n.65-10T>C
ENST00000583850.5:n.460T>C
ENST00000583858.5:c.620T>C
ENST00000585203.6:n.880T>C
NM_000018.3:c.1689T>C	NP_000009.1:p.Phe563=
NM_001033859.2:c.1623T>C	NP_001029031.1:p.Phe541=
NM_001270447.1:c.1758T>C	NP_001257376.1:p.Phe586=
NM_001270448.1:c.1461T>C	NP_001257377.1:p.Phe487=
XM_006721516.2:c.1679-63T>C	XP_006721579.2:n.1679-63T>C
XM_011523829.1:c.1577-63T>C	XP_011522131.1:n.1577-63T>C
XM_011523830.1:c.1587T>C	XP_011522132.1:p.Phe529=
XR_934021.1:n.1792T>C
XR_934022.1:n.1698T>C
XR_934023.1:n.1688-63T>C
XM_006721516.3:c.1679-63T>C	XP_006721579.2:n.1679-63T>C
XM_011523829.2:c.1577-63T>C	XP_011522131.1:n.1577-63T>C
XM_011523830.2:c.1587T>C	XP_011522132.1:p.Phe529=
XM_024450741.1:c.1677T>C	XP_024306509.1:p.Phe559=
XR_934021.2:n.1744T>C
XR_934022.2:n.1650T>C
XR_934023.2:n.1640-63T>C
NM_000018.4:c.1689T>C MANE Select	NP_000009.1:p.Phe563=
NM_001033859.3:c.1623T>C	NP_001029031.1:p.Phe541=
NM_001270447.2:c.1758T>C	NP_001257376.1:p.Phe586=
NM_001270448.2:c.1461T>C	NP_001257377.1:p.Phe487=