Canonical Allele Identifier: CA397725427

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224373-T-G
• MyVariant Identifiers: chr17:g.7127692T>G (hg19) ; chr17:g.7224373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224373T>G , CM000679.2:g.7224373T>G	GRCh38
NC_000017.10:g.7127692T>G , CM000679.1:g.7127692T>G	GRCh37
NC_000017.9:g.7068416T>G	NCBI36
NG_007975.1:g.9540T>G
NG_008391.2:g.678A>C
NG_033038.1:g.15172A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1585T>G MANE Select	ENSP00000349297.5:p.Leu529Val
ENST00000322910.9:c.*1540T>G	ENSP00000325395.5:n.*1540T>G
ENST00000350303.9:c.1519T>G	ENSP00000344152.5:p.Leu507Val
ENST00000356839.9:c.1585T>G	ENSP00000349297.5:p.Leu529Val
ENST00000542255.6:c.443T>G
ENST00000543245.6:c.1654T>G	ENSP00000438689.2:p.Leu552Val
ENST00000578319.5:n.80T>G
ENST00000578711.1:n.869T>G
ENST00000578809.5:n.157T>G
ENST00000579391.1:n.193T>G
ENST00000579425.5:n.701T>G
ENST00000579546.1:c.324T>G
ENST00000579894.5:n.372T>G
ENST00000582450.1:n.93T>G
ENST00000583074.5:n.206T>G
ENST00000583850.5:n.360T>G
ENST00000583858.5:c.516T>G
ENST00000585203.6:n.776T>G
NM_000018.3:c.1585T>G	NP_000009.1:p.Leu529Val
NM_001033859.2:c.1519T>G	NP_001029031.1:p.Leu507Val
NM_001270447.1:c.1654T>G	NP_001257376.1:p.Leu552Val
NM_001270448.1:c.1357T>G	NP_001257377.1:p.Leu453Val
XM_006721516.2:c.1585T>G	XP_006721579.2:p.Leu529Val
XM_011523829.1:c.1487T>G	XP_011522131.1:p.Val496Gly
XM_011523830.1:c.1487T>G	XP_011522132.1:p.Val496Gly
XR_934021.1:n.1692T>G
XR_934022.1:n.1594T>G
XR_934023.1:n.1594T>G
XM_006721516.3:c.1585T>G	XP_006721579.2:p.Leu529Val
XM_011523829.2:c.1487T>G	XP_011522131.1:p.Val496Gly
XM_011523830.2:c.1487T>G	XP_011522132.1:p.Val496Gly
XM_024450741.1:c.1487T>G	XP_024306509.1:p.Val496Gly
XR_934021.2:n.1644T>G
XR_934022.2:n.1546T>G
XR_934023.2:n.1546T>G
NM_000018.4:c.1585T>G MANE Select	NP_000009.1:p.Leu529Val
NM_001033859.3:c.1519T>G	NP_001029031.1:p.Leu507Val
NM_001270447.2:c.1654T>G	NP_001257376.1:p.Leu552Val
NM_001270448.2:c.1357T>G	NP_001257377.1:p.Leu453Val