Canonical Allele Identifier: CA397722885

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932855
• ClinVar RCV Id: RCV001200814
• dbSNP Id: rs1458941582
• MyVariant Identifiers: chr17:g.7124328G>C (hg19) ; chr17:g.7221009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221009G>C , CM000679.2:g.7221009G>C	GRCh38
NC_000017.10:g.7124328G>C , CM000679.1:g.7124328G>C	GRCh37
NC_000017.9:g.7065052G>C	NCBI36
NG_007975.1:g.6176G>C
NG_008391.2:g.4042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.428G>C MANE Select	ENSP00000349297.5:p.Gly143Ala
ENST00000322910.9:c.*383G>C	ENSP00000325395.5:n.*383G>C
ENST00000350303.9:c.362G>C	ENSP00000344152.5:p.Gly121Ala
ENST00000356839.9:c.428G>C	ENSP00000349297.5:p.Gly143Ala
ENST00000543245.6:c.497G>C	ENSP00000438689.2:p.Gly166Ala
ENST00000577191.5:n.505G>C
ENST00000577433.5:n.636G>C
ENST00000577857.5:n.293+179G>C
ENST00000579286.5:n.609G>C
ENST00000579886.2:c.266G>C	ENSP00000463246.1:p.Gly89Ala
ENST00000580365.1:n.159G>C
ENST00000581378.5:c.127G>C
ENST00000581562.5:n.475G>C
ENST00000582056.5:n.611G>C
ENST00000582166.1:n.409G>C
ENST00000583312.5:c.428G>C	ENSP00000467920.1:p.Gly143Ala
ENST00000584103.5:c.461G>C	ENSP00000465353.1:p.Gly154Ala
NM_000018.3:c.428G>C	NP_000009.1:p.Gly143Ala
NM_001033859.2:c.362G>C	NP_001029031.1:p.Gly121Ala
NM_001270447.1:c.497G>C	NP_001257376.1:p.Gly166Ala
NM_001270448.1:c.200G>C	NP_001257377.1:p.Gly67Ala
XM_006721516.2:c.428G>C	XP_006721579.2:p.Gly143Ala
XM_011523829.1:c.428G>C	XP_011522131.1:p.Gly143Ala
XM_011523830.1:c.428G>C	XP_011522132.1:p.Gly143Ala
XR_934021.1:n.535G>C
XR_934022.1:n.535G>C
XR_934023.1:n.535G>C
XM_006721516.3:c.428G>C	XP_006721579.2:p.Gly143Ala
XM_011523829.2:c.428G>C	XP_011522131.1:p.Gly143Ala
XM_011523830.2:c.428G>C	XP_011522132.1:p.Gly143Ala
XM_024450741.1:c.428G>C	XP_024306509.1:p.Gly143Ala
XR_934021.2:n.487G>C
XR_934022.2:n.487G>C
XR_934023.2:n.487G>C
NM_000018.4:c.428G>C MANE Select	NP_000009.1:p.Gly143Ala
NM_001033859.3:c.362G>C	NP_001029031.1:p.Gly121Ala
NM_001270447.2:c.497G>C	NP_001257376.1:p.Gly166Ala
NM_001270448.2:c.200G>C	NP_001257377.1:p.Gly67Ala