Canonical Allele Identifier: CA8338087

Gene: ACADVL

Linked Data

• dbSNP Id: rs776561181
• ExAC: 17:7127290 C / G
• gnomAD v2: 17-7127290-C-G
• gnomAD v4: 17-7223971-C-G
• MyVariant Identifiers: chr17:g.7127290C>G (hg19) ; chr17:g.7223971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223971C>G , CM000679.2:g.7223971C>G	GRCh38
NC_000017.10:g.7127290C>G , CM000679.1:g.7127290C>G	GRCh37
NC_000017.9:g.7068014C>G	NCBI36
NG_007975.1:g.9138C>G
NG_008391.2:g.1080G>C
NG_033038.1:g.15574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1336C>G MANE Select	ENSP00000349297.5:p.Pro446Ala
ENST00000322910.9:c.*1291C>G	ENSP00000325395.5:n.*1291C>G
ENST00000350303.9:c.1270C>G	ENSP00000344152.5:p.Pro424Ala
ENST00000356839.9:c.1336C>G	ENSP00000349297.5:p.Pro446Ala
ENST00000542255.6:c.194C>G
ENST00000543245.6:c.1405C>G	ENSP00000438689.2:p.Pro469Ala
ENST00000578711.1:n.467C>G
ENST00000579425.5:n.452C>G
ENST00000579546.1:c.173C>G
ENST00000579894.5:n.47C>G
ENST00000583074.5:n.55C>G
ENST00000583850.5:n.111C>G
ENST00000583858.5:c.365C>G
ENST00000585203.6:n.527C>G
NM_000018.3:c.1336C>G	NP_000009.1:p.Pro446Ala
NM_001033859.2:c.1270C>G	NP_001029031.1:p.Pro424Ala
NM_001270447.1:c.1405C>G	NP_001257376.1:p.Pro469Ala
NM_001270448.1:c.1108C>G	NP_001257377.1:p.Pro370Ala
XM_006721516.2:c.1336C>G	XP_006721579.2:p.Pro446Ala
XM_011523829.1:c.1336C>G	XP_011522131.1:p.Pro446Ala
XM_011523830.1:c.1336C>G	XP_011522132.1:p.Pro446Ala
XR_934021.1:n.1443C>G
XR_934022.1:n.1443C>G
XR_934023.1:n.1443C>G
XM_006721516.3:c.1336C>G	XP_006721579.2:p.Pro446Ala
XM_011523829.2:c.1336C>G	XP_011522131.1:p.Pro446Ala
XM_011523830.2:c.1336C>G	XP_011522132.1:p.Pro446Ala
XM_024450741.1:c.1336C>G	XP_024306509.1:p.Pro446Ala
XR_934021.2:n.1395C>G
XR_934022.2:n.1395C>G
XR_934023.2:n.1395C>G
NM_000018.4:c.1336C>G MANE Select	NP_000009.1:p.Pro446Ala
NM_001033859.3:c.1270C>G	NP_001029031.1:p.Pro424Ala
NM_001270447.2:c.1405C>G	NP_001257376.1:p.Pro469Ala
NM_001270448.2:c.1108C>G	NP_001257377.1:p.Pro370Ala