Canonical Allele Identifier: CA397722956

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124366T>A (hg19) ; chr17:g.7221047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221047T>A , CM000679.2:g.7221047T>A	GRCh38
NC_000017.10:g.7124366T>A , CM000679.1:g.7124366T>A	GRCh37
NC_000017.9:g.7065090T>A	NCBI36
NG_007975.1:g.6214T>A
NG_008391.2:g.4004A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.466T>A MANE Select	ENSP00000349297.5:p.Cys156Ser
ENST00000322910.9:c.*421T>A	ENSP00000325395.5:n.*421T>A
ENST00000350303.9:c.400T>A	ENSP00000344152.5:p.Cys134Ser
ENST00000356839.9:c.466T>A	ENSP00000349297.5:p.Cys156Ser
ENST00000543245.6:c.535T>A	ENSP00000438689.2:p.Cys179Ser
ENST00000577191.5:n.543T>A
ENST00000577433.5:n.674T>A
ENST00000577857.5:n.293+217T>A
ENST00000579286.5:n.647T>A
ENST00000579886.2:c.304T>A	ENSP00000463246.1:p.Cys102Ser
ENST00000580365.1:n.197T>A
ENST00000581378.5:c.165T>A
ENST00000581562.5:n.513T>A
ENST00000582056.5:n.649T>A
ENST00000582166.1:n.447T>A
ENST00000583312.5:c.466T>A	ENSP00000467920.1:p.Cys156Ser
NM_000018.3:c.466T>A	NP_000009.1:p.Cys156Ser
NM_001033859.2:c.400T>A	NP_001029031.1:p.Cys134Ser
NM_001270447.1:c.535T>A	NP_001257376.1:p.Cys179Ser
NM_001270448.1:c.238T>A	NP_001257377.1:p.Cys80Ser
XM_006721516.2:c.466T>A	XP_006721579.2:p.Cys156Ser
XM_011523829.1:c.466T>A	XP_011522131.1:p.Cys156Ser
XM_011523830.1:c.466T>A	XP_011522132.1:p.Cys156Ser
XR_934021.1:n.573T>A
XR_934022.1:n.573T>A
XR_934023.1:n.573T>A
XM_006721516.3:c.466T>A	XP_006721579.2:p.Cys156Ser
XM_011523829.2:c.466T>A	XP_011522131.1:p.Cys156Ser
XM_011523830.2:c.466T>A	XP_011522132.1:p.Cys156Ser
XM_024450741.1:c.466T>A	XP_024306509.1:p.Cys156Ser
XR_934021.2:n.525T>A
XR_934022.2:n.525T>A
XR_934023.2:n.525T>A
NM_000018.4:c.466T>A MANE Select	NP_000009.1:p.Cys156Ser
NM_001033859.3:c.400T>A	NP_001029031.1:p.Cys134Ser
NM_001270447.2:c.535T>A	NP_001257376.1:p.Cys179Ser
NM_001270448.2:c.238T>A	NP_001257377.1:p.Cys80Ser