Canonical Allele Identifier: CA397724861

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127182G>T (hg19) ; chr17:g.7223863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223863G>T , CM000679.2:g.7223863G>T	GRCh38
NC_000017.10:g.7127182G>T , CM000679.1:g.7127182G>T	GRCh37
NC_000017.9:g.7067906G>T	NCBI36
NG_007975.1:g.9030G>T
NG_008391.2:g.1188C>A
NG_033038.1:g.15682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1320G>T MANE Select	ENSP00000349297.5:p.Met440Ile
ENST00000322910.9:c.*1275G>T	ENSP00000325395.5:n.*1275G>T
ENST00000350303.9:c.1254G>T	ENSP00000344152.5:p.Met418Ile
ENST00000356839.9:c.1320G>T	ENSP00000349297.5:p.Met440Ile
ENST00000542255.6:c.178G>T
ENST00000543245.6:c.1389G>T	ENSP00000438689.2:p.Met463Ile
ENST00000578711.1:n.359G>T
ENST00000579425.5:n.344G>T
ENST00000579546.1:c.157G>T
ENST00000583074.5:n.39G>T
ENST00000583850.5:n.95G>T
ENST00000583858.5:c.349G>T
ENST00000585203.6:n.523+5G>T
NM_000018.3:c.1320G>T	NP_000009.1:p.Met440Ile
NM_001033859.2:c.1254G>T	NP_001029031.1:p.Met418Ile
NM_001270447.1:c.1389G>T	NP_001257376.1:p.Met463Ile
NM_001270448.1:c.1092G>T	NP_001257377.1:p.Met364Ile
XM_006721516.2:c.1320G>T	XP_006721579.2:p.Met440Ile
XM_011523829.1:c.1320G>T	XP_011522131.1:p.Met440Ile
XM_011523830.1:c.1320G>T	XP_011522132.1:p.Met440Ile
XR_934021.1:n.1427G>T
XR_934022.1:n.1427G>T
XR_934023.1:n.1427G>T
XM_006721516.3:c.1320G>T	XP_006721579.2:p.Met440Ile
XM_011523829.2:c.1320G>T	XP_011522131.1:p.Met440Ile
XM_011523830.2:c.1320G>T	XP_011522132.1:p.Met440Ile
XM_024450741.1:c.1320G>T	XP_024306509.1:p.Met440Ile
XR_934021.2:n.1379G>T
XR_934022.2:n.1379G>T
XR_934023.2:n.1379G>T
NM_000018.4:c.1320G>T MANE Select	NP_000009.1:p.Met440Ile
NM_001033859.3:c.1254G>T	NP_001029031.1:p.Met418Ile
NM_001270447.2:c.1389G>T	NP_001257376.1:p.Met463Ile
NM_001270448.2:c.1092G>T	NP_001257377.1:p.Met364Ile