Canonical Allele Identifier: CA397722792

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124285G>T (hg19) ; chr17:g.7220966G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220966G>T , CM000679.2:g.7220966G>T	GRCh38
NC_000017.10:g.7124285G>T , CM000679.1:g.7124285G>T	GRCh37
NC_000017.9:g.7065009G>T	NCBI36
NG_007975.1:g.6133G>T
NG_008391.2:g.4085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.385G>T MANE Select	ENSP00000349297.5:p.Glu129Ter
ENST00000322910.9:c.*340G>T	ENSP00000325395.5:n.*340G>T
ENST00000350303.9:c.319G>T	ENSP00000344152.5:p.Glu107Ter
ENST00000356839.9:c.385G>T	ENSP00000349297.5:p.Glu129Ter
ENST00000543245.6:c.454G>T	ENSP00000438689.2:p.Glu152Ter
ENST00000577191.5:n.462G>T
ENST00000577433.5:n.593G>T
ENST00000577857.5:n.293+136G>T
ENST00000579286.5:n.566G>T
ENST00000579886.2:c.223G>T	ENSP00000463246.1:p.Glu75Ter
ENST00000580365.1:n.116G>T
ENST00000581378.5:c.84G>T
ENST00000581562.5:n.432G>T
ENST00000582056.5:n.568G>T
ENST00000582166.1:n.366G>T
ENST00000583312.5:c.385G>T	ENSP00000467920.1:p.Glu129Ter
ENST00000584103.5:c.418G>T	ENSP00000465353.1:p.Glu140Ter
NM_000018.3:c.385G>T	NP_000009.1:p.Glu129Ter
NM_001033859.2:c.319G>T	NP_001029031.1:p.Glu107Ter
NM_001270447.1:c.454G>T	NP_001257376.1:p.Glu152Ter
NM_001270448.1:c.157G>T	NP_001257377.1:p.Glu53Ter
XM_006721516.2:c.385G>T	XP_006721579.2:p.Glu129Ter
XM_011523829.1:c.385G>T	XP_011522131.1:p.Glu129Ter
XM_011523830.1:c.385G>T	XP_011522132.1:p.Glu129Ter
XR_934021.1:n.492G>T
XR_934022.1:n.492G>T
XR_934023.1:n.492G>T
XM_006721516.3:c.385G>T	XP_006721579.2:p.Glu129Ter
XM_011523829.2:c.385G>T	XP_011522131.1:p.Glu129Ter
XM_011523830.2:c.385G>T	XP_011522132.1:p.Glu129Ter
XM_024450741.1:c.385G>T	XP_024306509.1:p.Glu129Ter
XR_934021.2:n.444G>T
XR_934022.2:n.444G>T
XR_934023.2:n.444G>T
NM_000018.4:c.385G>T MANE Select	NP_000009.1:p.Glu129Ter
NM_001033859.3:c.319G>T	NP_001029031.1:p.Glu107Ter
NM_001270447.2:c.454G>T	NP_001257376.1:p.Glu152Ter
NM_001270448.2:c.157G>T	NP_001257377.1:p.Glu53Ter