Canonical Allele Identifier: CA397722449

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123981T>A (hg19) ; chr17:g.7220662T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220662T>A , CM000679.2:g.7220662T>A	GRCh38
NC_000017.10:g.7123981T>A , CM000679.1:g.7123981T>A	GRCh37
NC_000017.9:g.7064705T>A	NCBI36
NG_007975.1:g.5829T>A
NG_008391.2:g.4389A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.263T>A MANE Select	ENSP00000349297.5:p.Phe88Tyr
ENST00000322910.9:c.*218T>A	ENSP00000325395.5:n.*218T>A
ENST00000350303.9:c.197T>A	ENSP00000344152.5:p.Phe66Tyr
ENST00000356839.9:c.263T>A	ENSP00000349297.5:p.Phe88Tyr
ENST00000543245.6:c.332T>A	ENSP00000438689.2:p.Phe111Tyr
ENST00000577191.5:n.340T>A
ENST00000577433.5:n.471T>A
ENST00000577857.5:n.229-104T>A
ENST00000578269.5:n.710T>A
ENST00000578421.1:n.471T>A
ENST00000579286.5:n.444T>A
ENST00000579886.2:c.201+136T>A	ENSP00000463246.1:n.201+136T>A
ENST00000580263.5:n.427T>A
ENST00000581562.5:n.310T>A
ENST00000582056.5:n.353T>A
ENST00000582166.1:n.151T>A
ENST00000582356.5:n.462T>A
ENST00000583312.5:c.263T>A	ENSP00000467920.1:p.Phe88Tyr
ENST00000584103.5:c.263T>A	ENSP00000465353.1:p.Phe88Tyr
NM_000018.3:c.263T>A	NP_000009.1:p.Phe88Tyr
NM_001033859.2:c.197T>A	NP_001029031.1:p.Phe66Tyr
NM_001270447.1:c.332T>A	NP_001257376.1:p.Phe111Tyr
NM_001270448.1:c.35T>A	NP_001257377.1:p.Phe12Tyr
XM_006721516.2:c.263T>A	XP_006721579.2:p.Phe88Tyr
XM_011523829.1:c.263T>A	XP_011522131.1:p.Phe88Tyr
XM_011523830.1:c.263T>A	XP_011522132.1:p.Phe88Tyr
XR_934021.1:n.370T>A
XR_934022.1:n.370T>A
XR_934023.1:n.370T>A
XM_006721516.3:c.263T>A	XP_006721579.2:p.Phe88Tyr
XM_011523829.2:c.263T>A	XP_011522131.1:p.Phe88Tyr
XM_011523830.2:c.263T>A	XP_011522132.1:p.Phe88Tyr
XM_024450741.1:c.263T>A	XP_024306509.1:p.Phe88Tyr
XR_934021.2:n.322T>A
XR_934022.2:n.322T>A
XR_934023.2:n.322T>A
NM_000018.4:c.263T>A MANE Select	NP_000009.1:p.Phe88Tyr
NM_001033859.3:c.197T>A	NP_001029031.1:p.Phe66Tyr
NM_001270447.2:c.332T>A	NP_001257376.1:p.Phe111Tyr
NM_001270448.2:c.35T>A	NP_001257377.1:p.Phe12Tyr