Canonical Allele Identifier: CA397723265
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124986C>G (hg19) chr17:g.7221667C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221667C>G , CM000679.2:g.7221667C>G GRCh38
NC_000017.10:g.7124986C>G , CM000679.1:g.7124986C>G GRCh37
NC_000017.9:g.7065710C>G NCBI36
NG_007975.1:g.6834C>G
NG_008391.2:g.3384G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.607C>G MANE Select ENSP00000349297.5:p.Pro203Ala
ENST00000322910.9:c.*562C>G ENSP00000325395.5:n.*562C>G
ENST00000350303.9:c.541C>G ENSP00000344152.5:p.Pro181Ala
ENST00000356839.9:c.607C>G ENSP00000349297.5:p.Pro203Ala
ENST00000543245.6:c.676C>G ENSP00000438689.2:p.Pro226Ala
ENST00000577191.5:n.684C>G
ENST00000577857.5:n.423C>G
ENST00000579286.5:n.788C>G
ENST00000579886.2:c.445C>G ENSP00000463246.1:p.Pro149Ala
ENST00000580365.1:n.338C>G
ENST00000581378.5:c.325C>G
ENST00000581562.5:n.525-285C>G
ENST00000583312.5:c.607C>G ENSP00000467920.1:p.Pro203Ala
ENST00000583760.1:n.389C>G
NM_000018.3:c.607C>G NP_000009.1:p.Pro203Ala
NM_001033859.2:c.541C>G NP_001029031.1:p.Pro181Ala
NM_001270447.1:c.676C>G NP_001257376.1:p.Pro226Ala
NM_001270448.1:c.379C>G NP_001257377.1:p.Pro127Ala
XM_006721516.2:c.607C>G XP_006721579.2:p.Pro203Ala
XM_011523829.1:c.607C>G XP_011522131.1:p.Pro203Ala
XM_011523830.1:c.607C>G XP_011522132.1:p.Pro203Ala
XR_934021.1:n.714C>G
XR_934022.1:n.714C>G
XR_934023.1:n.714C>G
XM_006721516.3:c.607C>G XP_006721579.2:p.Pro203Ala
XM_011523829.2:c.607C>G XP_011522131.1:p.Pro203Ala
XM_011523830.2:c.607C>G XP_011522132.1:p.Pro203Ala
XM_024450741.1:c.607C>G XP_024306509.1:p.Pro203Ala
XR_934021.2:n.666C>G
XR_934022.2:n.666C>G
XR_934023.2:n.666C>G
NM_000018.4:c.607C>G MANE Select NP_000009.1:p.Pro203Ala
NM_001033859.3:c.541C>G NP_001029031.1:p.Pro181Ala
NM_001270447.2:c.676C>G NP_001257376.1:p.Pro226Ala
NM_001270448.2:c.379C>G NP_001257377.1:p.Pro127Ala
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