Canonical Allele Identifier: CA287440494

Gene: ACADVL

Linked Data

• dbSNP Id: rs113467582
• MyVariant Identifiers: chr17:g.7127797A>T (hg19) ; chr17:g.7224478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224478A>T , CM000679.2:g.7224478A>T	GRCh38
NC_000017.10:g.7127797A>T , CM000679.1:g.7127797A>T	GRCh37
NC_000017.9:g.7068521A>T	NCBI36
NG_007975.1:g.9645A>T
NG_008391.2:g.573T>A
NG_033038.1:g.15067T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1606-2A>T MANE Select	ENSP00000349297.5:n.1606-2A>T
ENST00000322910.9:c.*1561-2A>T	ENSP00000325395.5:n.*1561-2A>T
ENST00000350303.9:c.1540-2A>T	ENSP00000344152.5:n.1540-2A>T
ENST00000356839.9:c.1606-2A>T	ENSP00000349297.5:n.1606-2A>T
ENST00000542255.6:c.464-2A>T
ENST00000543245.6:c.1675-2A>T	ENSP00000438689.2:n.1675-2A>T
ENST00000578319.5:n.185A>T
ENST00000578711.1:n.974A>T
ENST00000578809.5:n.178-2A>T
ENST00000579391.1:n.214-6A>T
ENST00000579425.5:n.722-2A>T
ENST00000579546.1:c.345-6A>T
ENST00000579894.5:n.393-2A>T
ENST00000582450.1:n.114-2A>T
ENST00000583074.5:n.227-2A>T
ENST00000583850.5:n.381-6A>T
ENST00000583858.5:c.537-2A>T
ENST00000585203.6:n.797-2A>T
NM_000018.3:c.1606-2A>T	NP_000009.1:n.1606-2A>T
NM_001033859.2:c.1540-2A>T	NP_001029031.1:n.1540-2A>T
NM_001270447.1:c.1675-2A>T	NP_001257376.1:n.1675-2A>T
NM_001270448.1:c.1378-2A>T	NP_001257377.1:n.1378-2A>T
XM_006721516.2:c.1606-2A>T	XP_006721579.2:n.1606-2A>T
XM_011523829.1:c.1508-6A>T	XP_011522131.1:n.1508-6A>T
XM_011523830.1:c.1508-6A>T	XP_011522132.1:n.1508-6A>T
XR_934021.1:n.1713-6A>T
XR_934022.1:n.1615-2A>T
XR_934023.1:n.1615-2A>T
XM_006721516.3:c.1606-2A>T	XP_006721579.2:n.1606-2A>T
XM_011523829.2:c.1508-6A>T	XP_011522131.1:n.1508-6A>T
XM_011523830.2:c.1508-6A>T	XP_011522132.1:n.1508-6A>T
XM_024450741.1:c.1592A>T	XP_024306509.1:p.Lys531Met
XR_934021.2:n.1665-6A>T
XR_934022.2:n.1567-2A>T
XR_934023.2:n.1567-2A>T
NM_000018.4:c.1606-2A>T MANE Select	NP_000009.1:n.1606-2A>T
NM_001033859.3:c.1540-2A>T	NP_001029031.1:n.1540-2A>T
NM_001270447.2:c.1675-2A>T	NP_001257376.1:n.1675-2A>T
NM_001270448.2:c.1378-2A>T	NP_001257377.1:n.1378-2A>T