Canonical Allele Identifier: CA8338275

Gene: ACADVL

Linked Data

• dbSNP Id: rs762020897
• ExAC: 17:7128198 A / T
• gnomAD v2: 17-7128198-A-T
• gnomAD v4: 17-7224879-A-T
• MyVariant Identifiers: chr17:g.7128198A>T (hg19) ; chr17:g.7224879A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224879A>T , CM000679.2:g.7224879A>T	GRCh38
NC_000017.10:g.7128198A>T , CM000679.1:g.7128198A>T	GRCh37
NC_000017.9:g.7068922A>T	NCBI36
NG_007975.1:g.10046A>T
NG_008391.2:g.172T>A
NG_033038.1:g.14666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1822A>T MANE Select	ENSP00000349297.5:p.Ile608Phe
ENST00000322910.9:c.*1777A>T	ENSP00000325395.5:n.*1777A>T
ENST00000350303.9:c.1756A>T	ENSP00000344152.5:p.Ile586Phe
ENST00000356839.9:c.1822A>T	ENSP00000349297.5:p.Ile608Phe
ENST00000542255.6:c.701A>T
ENST00000543245.6:c.1891A>T	ENSP00000438689.2:p.Ile631Phe
ENST00000578033.1:n.247A>T
ENST00000578319.5:n.403A>T
ENST00000578711.1:n.1375A>T
ENST00000578809.5:n.394A>T
ENST00000579425.5:n.938A>T
ENST00000579546.1:c.557A>T
ENST00000583848.5:c.188A>T	ENSP00000466487.1:n.188A>T
ENST00000583850.5:n.593A>T
ENST00000583858.5:c.753A>T
NM_000018.3:c.1822A>T	NP_000009.1:p.Ile608Phe
NM_001033859.2:c.1756A>T	NP_001029031.1:p.Ile586Phe
NM_001270447.1:c.1891A>T	NP_001257376.1:p.Ile631Phe
NM_001270448.1:c.1594A>T	NP_001257377.1:p.Ile532Phe
XM_006721516.2:c.1843A>T	XP_006721579.2:p.Ile615Phe
XM_011523829.1:c.1741A>T	XP_011522131.1:p.Ile581Phe
XM_011523830.1:c.1720A>T	XP_011522132.1:p.Ile574Phe
XR_934021.1:n.1925A>T
XR_934022.1:n.1831A>T
XR_934023.1:n.1852A>T
XM_006721516.3:c.1843A>T	XP_006721579.2:p.Ile615Phe
XM_011523829.2:c.1741A>T	XP_011522131.1:p.Ile581Phe
XM_011523830.2:c.1720A>T	XP_011522132.1:p.Ile574Phe
XM_024450741.1:c.1810A>T	XP_024306509.1:p.Ile604Phe
XR_934021.2:n.1877A>T
XR_934022.2:n.1783A>T
XR_934023.2:n.1804A>T
NM_000018.4:c.1822A>T MANE Select	NP_000009.1:p.Ile608Phe
NM_001033859.3:c.1756A>T	NP_001029031.1:p.Ile586Phe
NM_001270447.2:c.1891A>T	NP_001257376.1:p.Ile631Phe
NM_001270448.2:c.1594A>T	NP_001257377.1:p.Ile532Phe