Canonical Allele Identifier: CA397725628

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127871A>C (hg19) ; chr17:g.7224552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224552A>C , CM000679.2:g.7224552A>C	GRCh38
NC_000017.10:g.7127871A>C , CM000679.1:g.7127871A>C	GRCh37
NC_000017.9:g.7068595A>C	NCBI36
NG_007975.1:g.9719A>C
NG_008391.2:g.499T>G
NG_033038.1:g.14993T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1678A>C MANE Select	ENSP00000349297.5:p.Asn560His
ENST00000322910.9:c.*1633A>C	ENSP00000325395.5:n.*1633A>C
ENST00000350303.9:c.1612A>C	ENSP00000344152.5:p.Asn538His
ENST00000356839.9:c.1678A>C	ENSP00000349297.5:p.Asn560His
ENST00000542255.6:c.536A>C
ENST00000543245.6:c.1747A>C	ENSP00000438689.2:p.Asn583His
ENST00000578319.5:n.259A>C
ENST00000578711.1:n.1048A>C
ENST00000578809.5:n.250A>C
ENST00000579391.1:n.282A>C
ENST00000579425.5:n.794A>C
ENST00000579546.1:c.413A>C
ENST00000582450.1:n.186A>C
ENST00000583074.5:n.299A>C
ENST00000583848.5:c.64A>C	ENSP00000466487.1:p.Thr22Pro
ENST00000583850.5:n.449A>C
ENST00000583858.5:c.609A>C
ENST00000585203.6:n.869A>C
NM_000018.3:c.1678A>C	NP_000009.1:p.Asn560His
NM_001033859.2:c.1612A>C	NP_001029031.1:p.Asn538His
NM_001270447.1:c.1747A>C	NP_001257376.1:p.Asn583His
NM_001270448.1:c.1450A>C	NP_001257377.1:p.Asn484His
XM_006721516.2:c.1678A>C	XP_006721579.2:p.Ser560Arg
XM_011523829.1:c.1576A>C	XP_011522131.1:p.Ser526Arg
XM_011523830.1:c.1576A>C	XP_011522132.1:p.Asn526His
XR_934021.1:n.1781A>C
XR_934022.1:n.1687A>C
XR_934023.1:n.1687A>C
XM_006721516.3:c.1678A>C	XP_006721579.2:p.Ser560Arg
XM_011523829.2:c.1576A>C	XP_011522131.1:p.Ser526Arg
XM_011523830.2:c.1576A>C	XP_011522132.1:p.Asn526His
XM_024450741.1:c.1666A>C	XP_024306509.1:p.Asn556His
XR_934021.2:n.1733A>C
XR_934022.2:n.1639A>C
XR_934023.2:n.1639A>C
NM_000018.4:c.1678A>C MANE Select	NP_000009.1:p.Asn560His
NM_001033859.3:c.1612A>C	NP_001029031.1:p.Asn538His
NM_001270447.2:c.1747A>C	NP_001257376.1:p.Asn583His
NM_001270448.2:c.1450A>C	NP_001257377.1:p.Asn484His