Canonical Allele Identifier: CA397725526
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224504G>C , CM000679.2:g.7224504G>C GRCh38
NC_000017.10:g.7127823G>C , CM000679.1:g.7127823G>C GRCh37
NC_000017.9:g.7068547G>C NCBI36
NG_007975.1:g.9671G>C
NG_008391.2:g.547C>G
NG_033038.1:g.15041C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1630G>C MANE Select ENSP00000349297.5:p.Ala544Pro
ENST00000322910.9:c.*1585G>C ENSP00000325395.5:n.*1585G>C
ENST00000350303.9:c.1564G>C ENSP00000344152.5:p.Ala522Pro
ENST00000356839.9:c.1630G>C ENSP00000349297.5:p.Ala544Pro
ENST00000542255.6:c.488G>C
ENST00000543245.6:c.1699G>C ENSP00000438689.2:p.Ala567Pro
ENST00000578319.5:n.211G>C
ENST00000578711.1:n.1000G>C
ENST00000578809.5:n.202G>C
ENST00000579391.1:n.234G>C
ENST00000579425.5:n.746G>C
ENST00000579546.1:c.365G>C
ENST00000579894.5:n.417G>C
ENST00000582450.1:n.138G>C
ENST00000583074.5:n.251G>C
ENST00000583848.5:c.16G>C ENSP00000466487.1:p.Ala6Pro
ENST00000583850.5:n.401G>C
ENST00000583858.5:c.561G>C
ENST00000585203.6:n.821G>C
NM_000018.3:c.1630G>C NP_000009.1:p.Ala544Pro
NM_001033859.2:c.1564G>C NP_001029031.1:p.Ala522Pro
NM_001270447.1:c.1699G>C NP_001257376.1:p.Ala567Pro
NM_001270448.1:c.1402G>C NP_001257377.1:p.Ala468Pro
XM_006721516.2:c.1630G>C XP_006721579.2:p.Ala544Pro
XM_011523829.1:c.1528G>C XP_011522131.1:p.Ala510Pro
XM_011523830.1:c.1528G>C XP_011522132.1:p.Ala510Pro
XR_934021.1:n.1733G>C
XR_934022.1:n.1639G>C
XR_934023.1:n.1639G>C
XM_006721516.3:c.1630G>C XP_006721579.2:p.Ala544Pro
XM_011523829.2:c.1528G>C XP_011522131.1:p.Ala510Pro
XM_011523830.2:c.1528G>C XP_011522132.1:p.Ala510Pro
XM_024450741.1:c.1618G>C XP_024306509.1:p.Ala540Pro
XR_934021.2:n.1685G>C
XR_934022.2:n.1591G>C
XR_934023.2:n.1591G>C
NM_000018.4:c.1630G>C MANE Select NP_000009.1:p.Ala544Pro
NM_001033859.3:c.1564G>C NP_001029031.1:p.Ala522Pro
NM_001270447.2:c.1699G>C NP_001257376.1:p.Ala567Pro
NM_001270448.2:c.1402G>C NP_001257377.1:p.Ala468Pro