Canonical Allele Identifier: CA397723021

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1487314
• ClinVar RCV Id: RCV002006364
• dbSNP Id: rs2071225938
• MyVariant Identifiers: chr17:g.7124870T>C (hg19) ; chr17:g.7221551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221551T>C , CM000679.2:g.7221551T>C	GRCh38
NC_000017.10:g.7124870T>C , CM000679.1:g.7124870T>C	GRCh37
NC_000017.9:g.7065594T>C	NCBI36
NG_007975.1:g.6718T>C
NG_008391.2:g.3500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.491T>C MANE Select	ENSP00000349297.5:p.Val164Ala
ENST00000322910.9:c.*446T>C	ENSP00000325395.5:n.*446T>C
ENST00000350303.9:c.425T>C	ENSP00000344152.5:p.Val142Ala
ENST00000356839.9:c.491T>C	ENSP00000349297.5:p.Val164Ala
ENST00000543245.6:c.560T>C	ENSP00000438689.2:p.Val187Ala
ENST00000577191.5:n.568T>C
ENST00000577433.5:n.699T>C
ENST00000577857.5:n.307T>C
ENST00000579286.5:n.672T>C
ENST00000579886.2:c.329T>C	ENSP00000463246.1:p.Val110Ala
ENST00000580365.1:n.222T>C
ENST00000581378.5:c.209T>C
ENST00000581562.5:n.525-401T>C
ENST00000582166.1:n.472T>C
ENST00000583312.5:c.491T>C	ENSP00000467920.1:p.Val164Ala
ENST00000583760.1:n.273T>C
NM_000018.3:c.491T>C	NP_000009.1:p.Val164Ala
NM_001033859.2:c.425T>C	NP_001029031.1:p.Val142Ala
NM_001270447.1:c.560T>C	NP_001257376.1:p.Val187Ala
NM_001270448.1:c.263T>C	NP_001257377.1:p.Val88Ala
XM_006721516.2:c.491T>C	XP_006721579.2:p.Val164Ala
XM_011523829.1:c.491T>C	XP_011522131.1:p.Val164Ala
XM_011523830.1:c.491T>C	XP_011522132.1:p.Val164Ala
XR_934021.1:n.598T>C
XR_934022.1:n.598T>C
XR_934023.1:n.598T>C
XM_006721516.3:c.491T>C	XP_006721579.2:p.Val164Ala
XM_011523829.2:c.491T>C	XP_011522131.1:p.Val164Ala
XM_011523830.2:c.491T>C	XP_011522132.1:p.Val164Ala
XM_024450741.1:c.491T>C	XP_024306509.1:p.Val164Ala
XR_934021.2:n.550T>C
XR_934022.2:n.550T>C
XR_934023.2:n.550T>C
NM_000018.4:c.491T>C MANE Select	NP_000009.1:p.Val164Ala
NM_001033859.3:c.425T>C	NP_001029031.1:p.Val142Ala
NM_001270447.2:c.560T>C	NP_001257376.1:p.Val187Ala
NM_001270448.2:c.263T>C	NP_001257377.1:p.Val88Ala