Canonical Allele Identifier: CA497694429
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224348-T-C
MyVariant Identifiers: chr17:g.7127667T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224348T>C , CM000679.2:g.7224348T>C GRCh38
NC_000017.10:g.7127667T>C , CM000679.1:g.7127667T>C GRCh37
NC_000017.9:g.7068391T>C NCBI36
NG_007975.1:g.9515T>C
NG_008391.2:g.703A>G
NG_033038.1:g.15197A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1560T>C MANE Select ENSP00000349297.5:p.Ser520=
ENST00000322910.9:c.*1515T>C ENSP00000325395.5:n.*1515T>C
ENST00000350303.9:c.1494T>C ENSP00000344152.5:p.Ser498=
ENST00000356839.9:c.1560T>C ENSP00000349297.5:p.Ser520=
ENST00000542255.6:c.418T>C
ENST00000543245.6:c.1629T>C ENSP00000438689.2:p.Ser543=
ENST00000578319.5:n.55T>C
ENST00000578711.1:n.844T>C
ENST00000578809.5:n.132T>C
ENST00000579391.1:n.168T>C
ENST00000579425.5:n.676T>C
ENST00000579546.1:c.299T>C
ENST00000579894.5:n.347T>C
ENST00000582450.1:n.68T>C
ENST00000583074.5:n.181T>C
ENST00000583850.5:n.335T>C
ENST00000583858.5:c.491T>C
ENST00000585203.6:n.751T>C
NM_000018.3:c.1560T>C NP_000009.1:p.Ser520=
NM_001033859.2:c.1494T>C NP_001029031.1:p.Ser498=
NM_001270447.1:c.1629T>C NP_001257376.1:p.Ser543=
NM_001270448.1:c.1332T>C NP_001257377.1:p.Ser444=
XM_006721516.2:c.1560T>C XP_006721579.2:p.Ser520=
XM_011523829.1:c.1462T>C XP_011522131.1:p.Ser488Pro
XM_011523830.1:c.1462T>C XP_011522132.1:p.Ser488Pro
XR_934021.1:n.1667T>C
XR_934022.1:n.1569T>C
XR_934023.1:n.1569T>C
XM_006721516.3:c.1560T>C XP_006721579.2:p.Ser520=
XM_011523829.2:c.1462T>C XP_011522131.1:p.Ser488Pro
XM_011523830.2:c.1462T>C XP_011522132.1:p.Ser488Pro
XM_024450741.1:c.1462T>C XP_024306509.1:p.Ser488Pro
XR_934021.2:n.1619T>C
XR_934022.2:n.1521T>C
XR_934023.2:n.1521T>C
NM_000018.4:c.1560T>C MANE Select NP_000009.1:p.Ser520=
NM_001033859.3:c.1494T>C NP_001029031.1:p.Ser498=
NM_001270447.2:c.1629T>C NP_001257376.1:p.Ser543=
NM_001270448.2:c.1332T>C NP_001257377.1:p.Ser444=
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