Canonical Allele Identifier: CA397725484

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127800C>T (hg19) ; chr17:g.7224481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224481C>T , CM000679.2:g.7224481C>T	GRCh38
NC_000017.10:g.7127800C>T , CM000679.1:g.7127800C>T	GRCh37
NC_000017.9:g.7068524C>T	NCBI36
NG_007975.1:g.9648C>T
NG_008391.2:g.570G>A
NG_033038.1:g.15064G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1607C>T MANE Select	ENSP00000349297.5:p.Ala536Val
ENST00000322910.9:c.*1562C>T	ENSP00000325395.5:n.*1562C>T
ENST00000350303.9:c.1541C>T	ENSP00000344152.5:p.Ala514Val
ENST00000356839.9:c.1607C>T	ENSP00000349297.5:p.Ala536Val
ENST00000542255.6:c.465C>T
ENST00000543245.6:c.1676C>T	ENSP00000438689.2:p.Ala559Val
ENST00000578319.5:n.188C>T
ENST00000578711.1:n.977C>T
ENST00000578809.5:n.179C>T
ENST00000579391.1:n.214-3C>T
ENST00000579425.5:n.723C>T
ENST00000579546.1:c.345-3C>T
ENST00000579894.5:n.394C>T
ENST00000582450.1:n.115C>T
ENST00000583074.5:n.228C>T
ENST00000583850.5:n.381-3C>T
ENST00000583858.5:c.538C>T
ENST00000585203.6:n.798C>T
NM_000018.3:c.1607C>T	NP_000009.1:p.Ala536Val
NM_001033859.2:c.1541C>T	NP_001029031.1:p.Ala514Val
NM_001270447.1:c.1676C>T	NP_001257376.1:p.Ala559Val
NM_001270448.1:c.1379C>T	NP_001257377.1:p.Ala460Val
XM_006721516.2:c.1607C>T	XP_006721579.2:p.Ala536Val
XM_011523829.1:c.1508-3C>T	XP_011522131.1:n.1508-3C>T
XM_011523830.1:c.1508-3C>T	XP_011522132.1:n.1508-3C>T
XR_934021.1:n.1713-3C>T
XR_934022.1:n.1616C>T
XR_934023.1:n.1616C>T
XM_006721516.3:c.1607C>T	XP_006721579.2:p.Ala536Val
XM_011523829.2:c.1508-3C>T	XP_011522131.1:n.1508-3C>T
XM_011523830.2:c.1508-3C>T	XP_011522132.1:n.1508-3C>T
XM_024450741.1:c.1595C>T	XP_024306509.1:p.Ala532Val
XR_934021.2:n.1665-3C>T
XR_934022.2:n.1568C>T
XR_934023.2:n.1568C>T
NM_000018.4:c.1607C>T MANE Select	NP_000009.1:p.Ala536Val
NM_001033859.3:c.1541C>T	NP_001029031.1:p.Ala514Val
NM_001270447.2:c.1676C>T	NP_001257376.1:p.Ala559Val
NM_001270448.2:c.1379C>T	NP_001257377.1:p.Ala460Val