Canonical Allele Identifier: CA397723172

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124941G>T (hg19) ; chr17:g.7221622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221622G>T , CM000679.2:g.7221622G>T	GRCh38
NC_000017.10:g.7124941G>T , CM000679.1:g.7124941G>T	GRCh37
NC_000017.9:g.7065665G>T	NCBI36
NG_007975.1:g.6789G>T
NG_008391.2:g.3429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.562G>T MANE Select	ENSP00000349297.5:p.Gly188Cys
ENST00000322910.9:c.*517G>T	ENSP00000325395.5:n.*517G>T
ENST00000350303.9:c.496G>T	ENSP00000344152.5:p.Gly166Cys
ENST00000356839.9:c.562G>T	ENSP00000349297.5:p.Gly188Cys
ENST00000543245.6:c.631G>T	ENSP00000438689.2:p.Gly211Cys
ENST00000577191.5:n.639G>T
ENST00000577433.5:n.770G>T
ENST00000577857.5:n.378G>T
ENST00000579286.5:n.743G>T
ENST00000579886.2:c.400G>T	ENSP00000463246.1:p.Gly134Cys
ENST00000580365.1:n.293G>T
ENST00000581378.5:c.280G>T
ENST00000581562.5:n.525-330G>T
ENST00000582166.1:n.543G>T
ENST00000583312.5:c.562G>T	ENSP00000467920.1:p.Gly188Cys
ENST00000583760.1:n.344G>T
NM_000018.3:c.562G>T	NP_000009.1:p.Gly188Cys
NM_001033859.2:c.496G>T	NP_001029031.1:p.Gly166Cys
NM_001270447.1:c.631G>T	NP_001257376.1:p.Gly211Cys
NM_001270448.1:c.334G>T	NP_001257377.1:p.Gly112Cys
XM_006721516.2:c.562G>T	XP_006721579.2:p.Gly188Cys
XM_011523829.1:c.562G>T	XP_011522131.1:p.Gly188Cys
XM_011523830.1:c.562G>T	XP_011522132.1:p.Gly188Cys
XR_934021.1:n.669G>T
XR_934022.1:n.669G>T
XR_934023.1:n.669G>T
XM_006721516.3:c.562G>T	XP_006721579.2:p.Gly188Cys
XM_011523829.2:c.562G>T	XP_011522131.1:p.Gly188Cys
XM_011523830.2:c.562G>T	XP_011522132.1:p.Gly188Cys
XM_024450741.1:c.562G>T	XP_024306509.1:p.Gly188Cys
XR_934021.2:n.621G>T
XR_934022.2:n.621G>T
XR_934023.2:n.621G>T
NM_000018.4:c.562G>T MANE Select	NP_000009.1:p.Gly188Cys
NM_001033859.3:c.496G>T	NP_001029031.1:p.Gly166Cys
NM_001270447.2:c.631G>T	NP_001257376.1:p.Gly211Cys
NM_001270448.2:c.334G>T	NP_001257377.1:p.Gly112Cys