Canonical Allele Identifier: CA397725426

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127692T>A (hg19) ; chr17:g.7224373T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1585T>A MANE Select	ENSP00000349297.5:p.Leu529Met
ENST00000322910.9:c.*1540T>A	ENSP00000325395.5:n.*1540T>A
ENST00000350303.9:c.1519T>A	ENSP00000344152.5:p.Leu507Met
ENST00000356839.9:c.1585T>A	ENSP00000349297.5:p.Leu529Met
ENST00000542255.6:c.443T>A
ENST00000543245.6:c.1654T>A	ENSP00000438689.2:p.Leu552Met
ENST00000578319.5:n.80T>A
ENST00000578711.1:n.869T>A
ENST00000578809.5:n.157T>A
ENST00000579391.1:n.193T>A
ENST00000579425.5:n.701T>A
ENST00000579546.1:c.324T>A
ENST00000579894.5:n.372T>A
ENST00000582450.1:n.93T>A
ENST00000583074.5:n.206T>A
ENST00000583850.5:n.360T>A
ENST00000583858.5:c.516T>A
ENST00000585203.6:n.776T>A
NM_000018.3:c.1585T>A	NP_000009.1:p.Leu529Met
NM_001033859.2:c.1519T>A	NP_001029031.1:p.Leu507Met
NM_001270447.1:c.1654T>A	NP_001257376.1:p.Leu552Met
NM_001270448.1:c.1357T>A	NP_001257377.1:p.Leu453Met
XM_006721516.2:c.1585T>A	XP_006721579.2:p.Leu529Met
XM_011523829.1:c.1487T>A	XP_011522131.1:p.Val496Asp
XM_011523830.1:c.1487T>A	XP_011522132.1:p.Val496Asp
XR_934021.1:n.1692T>A
XR_934022.1:n.1594T>A
XR_934023.1:n.1594T>A
XM_006721516.3:c.1585T>A	XP_006721579.2:p.Leu529Met
XM_011523829.2:c.1487T>A	XP_011522131.1:p.Val496Asp
XM_011523830.2:c.1487T>A	XP_011522132.1:p.Val496Asp
XM_024450741.1:c.1487T>A	XP_024306509.1:p.Val496Asp
XR_934021.2:n.1644T>A
XR_934022.2:n.1546T>A
XR_934023.2:n.1546T>A
NM_000018.4:c.1585T>A MANE Select	NP_000009.1:p.Leu529Met
NM_001033859.3:c.1519T>A	NP_001029031.1:p.Leu507Met
NM_001270447.2:c.1654T>A	NP_001257376.1:p.Leu552Met
NM_001270448.2:c.1357T>A	NP_001257377.1:p.Leu453Met