Canonical Allele Identifier: CA397723431
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125318G>T (hg19) chr17:g.7221999G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221999G>T , CM000679.2:g.7221999G>T GRCh38
NC_000017.10:g.7125318G>T , CM000679.1:g.7125318G>T GRCh37
NC_000017.9:g.7066042G>T NCBI36
NG_007975.1:g.7166G>T
NG_008391.2:g.3052C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.670G>T MANE Select ENSP00000349297.5:p.Asp224Tyr
ENST00000322910.9:c.*625G>T ENSP00000325395.5:n.*625G>T
ENST00000350303.9:c.604G>T ENSP00000344152.5:p.Asp202Tyr
ENST00000356839.9:c.670G>T ENSP00000349297.5:p.Asp224Tyr
ENST00000543245.6:c.739G>T ENSP00000438689.2:p.Asp247Tyr
ENST00000577191.5:n.747G>T
ENST00000577857.5:n.486G>T
ENST00000579286.5:n.851G>T
ENST00000580365.1:n.401G>T
ENST00000581378.5:c.388G>T
ENST00000582379.1:n.54G>T
ENST00000583760.1:n.452G>T
NM_000018.3:c.670G>T NP_000009.1:p.Asp224Tyr
NM_001033859.2:c.604G>T NP_001029031.1:p.Asp202Tyr
NM_001270447.1:c.739G>T NP_001257376.1:p.Asp247Tyr
NM_001270448.1:c.442G>T NP_001257377.1:p.Asp148Tyr
XM_006721516.2:c.670G>T XP_006721579.2:p.Asp224Tyr
XM_011523829.1:c.670G>T XP_011522131.1:p.Asp224Tyr
XM_011523830.1:c.670G>T XP_011522132.1:p.Asp224Tyr
XR_934021.1:n.777G>T
XR_934022.1:n.777G>T
XR_934023.1:n.777G>T
XM_006721516.3:c.670G>T XP_006721579.2:p.Asp224Tyr
XM_011523829.2:c.670G>T XP_011522131.1:p.Asp224Tyr
XM_011523830.2:c.670G>T XP_011522132.1:p.Asp224Tyr
XM_024450741.1:c.670G>T XP_024306509.1:p.Asp224Tyr
XR_934021.2:n.729G>T
XR_934022.2:n.729G>T
XR_934023.2:n.729G>T
NM_000018.4:c.670G>T MANE Select NP_000009.1:p.Asp224Tyr
NM_001033859.3:c.604G>T NP_001029031.1:p.Asp202Tyr
NM_001270447.2:c.739G>T NP_001257376.1:p.Asp247Tyr
NM_001270448.2:c.442G>T NP_001257377.1:p.Asp148Tyr
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