Canonical Allele Identifier: CA2245714767
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224594C= , CM000679.2:g.7224594C= GRCh38
NC_000017.10:g.7127913C= , CM000679.1:g.7127913C= GRCh37
NC_000017.9:g.7068637C= NCBI36
NG_007975.1:g.9761C=
NG_008391.2:g.457G=
NG_033038.1:g.14951G=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1678+42C= MANE Select ENSP00000349297.5:n.1678+42C=
ENST00000322910.9:c.*1633+42C= ENSP00000325395.5:n.*1633+42C=
ENST00000350303.9:c.1612+42C= ENSP00000344152.5:n.1612+42C=
ENST00000356839.9:c.1678+42C= ENSP00000349297.5:n.1678+42C=
ENST00000542255.6:c.536+42C=
ENST00000543245.6:c.1747+42C= ENSP00000438689.2:n.1747+42C=
ENST00000578319.5:n.259+42C=
ENST00000578711.1:n.1090C=
ENST00000578809.5:n.250+42C=
ENST00000579391.1:n.324C=
ENST00000579425.5:n.794+42C=
ENST00000579546.1:c.413+42C=
ENST00000582450.1:n.228C=
ENST00000583074.5:n.299+42C=
ENST00000583848.5:c.64+42C= ENSP00000466487.1:n.64+42C=
ENST00000583850.5:n.449+42C=
ENST00000583858.5:c.609+42C=
ENST00000585203.6:n.869+42C=
NM_000018.3:c.1678+42C= NP_000009.1:n.1678+42C=
NM_001033859.2:c.1612+42C= NP_001029031.1:n.1612+42C=
NM_001270447.1:c.1747+42C= NP_001257376.1:n.1747+42C=
NM_001270448.1:c.1450+42C= NP_001257377.1:n.1450+42C=
XM_006721516.2:c.1678+42C= XP_006721579.2:n.1678+42C=
XM_011523829.1:c.1576+42C= XP_011522131.1:n.1576+42C=
XM_011523830.1:c.1576+42C= XP_011522132.1:n.1576+42C=
XR_934021.1:n.1781+42C=
XR_934022.1:n.1687+42C=
XR_934023.1:n.1687+42C=
XM_006721516.3:c.1678+42C= XP_006721579.2:n.1678+42C=
XM_011523829.2:c.1576+42C= XP_011522131.1:n.1576+42C=
XM_011523830.2:c.1576+42C= XP_011522132.1:n.1576+42C=
XM_024450741.1:c.1666+42C= XP_024306509.1:n.1666+42C=
XR_934021.2:n.1733+42C=
XR_934022.2:n.1639+42C=
XR_934023.2:n.1639+42C=
NM_000018.4:c.1678+42C= MANE Select NP_000009.1:n.1678+42C=
NM_001033859.3:c.1612+42C= NP_001029031.1:n.1612+42C=
NM_001270447.2:c.1747+42C= NP_001257376.1:n.1747+42C=
NM_001270448.2:c.1450+42C= NP_001257377.1:n.1450+42C=