Canonical Allele Identifier: CA497620245
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222799-C-G
MyVariant Identifiers: chr17:g.7126118C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222799C>G , CM000679.2:g.7222799C>G GRCh38
NC_000017.10:g.7126118C>G , CM000679.1:g.7126118C>G GRCh37
NC_000017.9:g.7066842C>G NCBI36
NG_007975.1:g.7966C>G
NG_008391.2:g.2252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1011C>G MANE Select ENSP00000349297.5:p.Leu337=
ENST00000322910.9:c.*966C>G ENSP00000325395.5:n.*966C>G
ENST00000350303.9:c.945C>G ENSP00000344152.5:p.Leu315=
ENST00000356839.9:c.1011C>G ENSP00000349297.5:p.Leu337=
ENST00000543245.6:c.1080C>G ENSP00000438689.2:p.Leu360=
ENST00000578824.5:n.160C>G
ENST00000581378.5:c.729C>G
ENST00000582379.1:n.395C>G
ENST00000583858.5:c.40C>G
NM_000018.3:c.1011C>G NP_000009.1:p.Leu337=
NM_001033859.2:c.945C>G NP_001029031.1:p.Leu315=
NM_001270447.1:c.1080C>G NP_001257376.1:p.Leu360=
NM_001270448.1:c.783C>G NP_001257377.1:p.Leu261=
XM_006721516.2:c.1011C>G XP_006721579.2:p.Leu337=
XM_011523829.1:c.1011C>G XP_011522131.1:p.Leu337=
XM_011523830.1:c.1011C>G XP_011522132.1:p.Leu337=
XR_934021.1:n.1118C>G
XR_934022.1:n.1118C>G
XR_934023.1:n.1118C>G
XM_006721516.3:c.1011C>G XP_006721579.2:p.Leu337=
XM_011523829.2:c.1011C>G XP_011522131.1:p.Leu337=
XM_011523830.2:c.1011C>G XP_011522132.1:p.Leu337=
XM_024450741.1:c.1011C>G XP_024306509.1:p.Leu337=
XR_934021.2:n.1070C>G
XR_934022.2:n.1070C>G
XR_934023.2:n.1070C>G
NM_000018.4:c.1011C>G MANE Select NP_000009.1:p.Leu337=
NM_001033859.3:c.945C>G NP_001029031.1:p.Leu315=
NM_001270447.2:c.1080C>G NP_001257376.1:p.Leu360=
NM_001270448.2:c.783C>G NP_001257377.1:p.Leu261=
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