Canonical Allele Identifier: CA220200

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92280
• ClinVar RCV Id: RCV000669184 ; RCV000723595
• dbSNP Id: rs375806217
• ExAC: 17:7128015 T / C
• gnomAD v2: 17-7128015-T-C
• gnomAD v3: 17-7224696-T-C
• gnomAD v4: 17-7224696-T-C
• MyVariant Identifiers: chr17:g.7128015T>C (hg19) ; chr17:g.7224696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224696T>C , CM000679.2:g.7224696T>C	GRCh38
NC_000017.10:g.7128015T>C , CM000679.1:g.7128015T>C	GRCh37
NC_000017.9:g.7068739T>C	NCBI36
NG_007975.1:g.9863T>C
NG_008391.2:g.355A>G
NG_033038.1:g.14849A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1733T>C MANE Select	ENSP00000349297.5:p.Met578Thr
ENST00000322910.9:c.*1688T>C	ENSP00000325395.5:n.*1688T>C
ENST00000350303.9:c.1667T>C	ENSP00000344152.5:p.Met556Thr
ENST00000356839.9:c.1733T>C	ENSP00000349297.5:p.Met578Thr
ENST00000542255.6:c.537-19T>C
ENST00000543245.6:c.1802T>C	ENSP00000438689.2:p.Met601Thr
ENST00000578033.1:n.64T>C
ENST00000578319.5:n.314T>C
ENST00000578711.1:n.1192T>C
ENST00000578809.5:n.305T>C
ENST00000579425.5:n.849T>C
ENST00000579546.1:c.468T>C
ENST00000583074.5:n.300-19T>C
ENST00000583848.5:c.99T>C	ENSP00000466487.1:p.His33=
ENST00000583850.5:n.504T>C
ENST00000583858.5:c.664T>C
ENST00000585203.6:n.924T>C
NM_000018.3:c.1733T>C	NP_000009.1:p.Met578Thr
NM_001033859.2:c.1667T>C	NP_001029031.1:p.Met556Thr
NM_001270447.1:c.1802T>C	NP_001257376.1:p.Met601Thr
NM_001270448.1:c.1505T>C	NP_001257377.1:p.Met502Thr
XM_006721516.2:c.1679-19T>C	XP_006721579.2:n.1679-19T>C
XM_011523829.1:c.1577-19T>C	XP_011522131.1:n.1577-19T>C
XM_011523830.1:c.1631T>C	XP_011522132.1:p.Met544Thr
XR_934021.1:n.1836T>C
XR_934022.1:n.1742T>C
XR_934023.1:n.1688-19T>C
XM_006721516.3:c.1679-19T>C	XP_006721579.2:n.1679-19T>C
XM_011523829.2:c.1577-19T>C	XP_011522131.1:n.1577-19T>C
XM_011523830.2:c.1631T>C	XP_011522132.1:p.Met544Thr
XM_024450741.1:c.1721T>C	XP_024306509.1:p.Met574Thr
XR_934021.2:n.1788T>C
XR_934022.2:n.1694T>C
XR_934023.2:n.1640-19T>C
NM_000018.4:c.1733T>C MANE Select	NP_000009.1:p.Met578Thr
NM_001033859.3:c.1667T>C	NP_001029031.1:p.Met556Thr
NM_001270447.2:c.1802T>C	NP_001257376.1:p.Met601Thr
NM_001270448.2:c.1505T>C	NP_001257377.1:p.Met502Thr