Canonical Allele Identifier: CA497694257
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7128013C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224694C>G , CM000679.2:g.7224694C>G GRCh38
NC_000017.10:g.7128013C>G , CM000679.1:g.7128013C>G GRCh37
NC_000017.9:g.7068737C>G NCBI36
NG_007975.1:g.9861C>G
NG_008391.2:g.357G>C
NG_033038.1:g.14851G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1731C>G MANE Select ENSP00000349297.5:p.Ala577=
ENST00000322910.9:c.*1686C>G ENSP00000325395.5:n.*1686C>G
ENST00000350303.9:c.1665C>G ENSP00000344152.5:p.Ala555=
ENST00000356839.9:c.1731C>G ENSP00000349297.5:p.Ala577=
ENST00000542255.6:c.537-21C>G
ENST00000543245.6:c.1800C>G ENSP00000438689.2:p.Ala600=
ENST00000578033.1:n.62C>G
ENST00000578319.5:n.312C>G
ENST00000578711.1:n.1190C>G
ENST00000578809.5:n.303C>G
ENST00000579425.5:n.847C>G
ENST00000579546.1:c.466C>G
ENST00000583074.5:n.300-21C>G
ENST00000583848.5:c.97C>G ENSP00000466487.1:p.His33Asp
ENST00000583850.5:n.502C>G
ENST00000583858.5:c.662C>G
ENST00000585203.6:n.922C>G
NM_000018.3:c.1731C>G NP_000009.1:p.Ala577=
NM_001033859.2:c.1665C>G NP_001029031.1:p.Ala555=
NM_001270447.1:c.1800C>G NP_001257376.1:p.Ala600=
NM_001270448.1:c.1503C>G NP_001257377.1:p.Ala501=
XM_006721516.2:c.1679-21C>G XP_006721579.2:n.1679-21C>G
XM_011523829.1:c.1577-21C>G XP_011522131.1:n.1577-21C>G
XM_011523830.1:c.1629C>G XP_011522132.1:p.Ala543=
XR_934021.1:n.1834C>G
XR_934022.1:n.1740C>G
XR_934023.1:n.1688-21C>G
XM_006721516.3:c.1679-21C>G XP_006721579.2:n.1679-21C>G
XM_011523829.2:c.1577-21C>G XP_011522131.1:n.1577-21C>G
XM_011523830.2:c.1629C>G XP_011522132.1:p.Ala543=
XM_024450741.1:c.1719C>G XP_024306509.1:p.Ala573=
XR_934021.2:n.1786C>G
XR_934022.2:n.1692C>G
XR_934023.2:n.1640-21C>G
NM_000018.4:c.1731C>G MANE Select NP_000009.1:p.Ala577=
NM_001033859.3:c.1665C>G NP_001029031.1:p.Ala555=
NM_001270447.2:c.1800C>G NP_001257376.1:p.Ala600=
NM_001270448.2:c.1503C>G NP_001257377.1:p.Ala501=