Canonical Allele Identifier: CA312249

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1466511
• ClinVar RCV Id: RCV001990553
• dbSNP Id: rs794727773
• MyVariant Identifiers: chr17:g.7124327G>A (hg19) ; chr17:g.7221008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221008G>A , CM000679.2:g.7221008G>A	GRCh38
NC_000017.10:g.7124327G>A , CM000679.1:g.7124327G>A	GRCh37
NC_000017.9:g.7065051G>A	NCBI36
NG_007975.1:g.6175G>A
NG_008391.2:g.4043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.427G>A MANE Select	ENSP00000349297.5:p.Gly143Ser
ENST00000322910.9:c.*382G>A	ENSP00000325395.5:n.*382G>A
ENST00000350303.9:c.361G>A	ENSP00000344152.5:p.Gly121Ser
ENST00000356839.9:c.427G>A	ENSP00000349297.5:p.Gly143Ser
ENST00000543245.6:c.496G>A	ENSP00000438689.2:p.Gly166Ser
ENST00000577191.5:n.504G>A
ENST00000577433.5:n.635G>A
ENST00000577857.5:n.293+178G>A
ENST00000579286.5:n.608G>A
ENST00000579886.2:c.265G>A	ENSP00000463246.1:p.Gly89Ser
ENST00000580365.1:n.158G>A
ENST00000581378.5:c.126G>A
ENST00000581562.5:n.474G>A
ENST00000582056.5:n.610G>A
ENST00000582166.1:n.408G>A
ENST00000583312.5:c.427G>A	ENSP00000467920.1:p.Gly143Ser
ENST00000584103.5:c.460G>A	ENSP00000465353.1:p.Gly154Ser
NM_000018.3:c.427G>A	NP_000009.1:p.Gly143Ser
NM_001033859.2:c.361G>A	NP_001029031.1:p.Gly121Ser
NM_001270447.1:c.496G>A	NP_001257376.1:p.Gly166Ser
NM_001270448.1:c.199G>A	NP_001257377.1:p.Gly67Ser
XM_006721516.2:c.427G>A	XP_006721579.2:p.Gly143Ser
XM_011523829.1:c.427G>A	XP_011522131.1:p.Gly143Ser
XM_011523830.1:c.427G>A	XP_011522132.1:p.Gly143Ser
XR_934021.1:n.534G>A
XR_934022.1:n.534G>A
XR_934023.1:n.534G>A
XM_006721516.3:c.427G>A	XP_006721579.2:p.Gly143Ser
XM_011523829.2:c.427G>A	XP_011522131.1:p.Gly143Ser
XM_011523830.2:c.427G>A	XP_011522132.1:p.Gly143Ser
XM_024450741.1:c.427G>A	XP_024306509.1:p.Gly143Ser
XR_934021.2:n.486G>A
XR_934022.2:n.486G>A
XR_934023.2:n.486G>A
NM_000018.4:c.427G>A MANE Select	NP_000009.1:p.Gly143Ser
NM_001033859.3:c.361G>A	NP_001029031.1:p.Gly121Ser
NM_001270447.2:c.496G>A	NP_001257376.1:p.Gly166Ser
NM_001270448.2:c.199G>A	NP_001257377.1:p.Gly67Ser