Canonical Allele Identifier: CA397724035
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126057T>G (hg19) chr17:g.7222738T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222738T>G , CM000679.2:g.7222738T>G GRCh38
NC_000017.10:g.7126057T>G , CM000679.1:g.7126057T>G GRCh37
NC_000017.9:g.7066781T>G NCBI36
NG_007975.1:g.7905T>G
NG_008391.2:g.2313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.950T>G MANE Select ENSP00000349297.5:p.Val317Gly
ENST00000322910.9:c.*905T>G ENSP00000325395.5:n.*905T>G
ENST00000350303.9:c.884T>G ENSP00000344152.5:p.Val295Gly
ENST00000356839.9:c.950T>G ENSP00000349297.5:p.Val317Gly
ENST00000543245.6:c.1019T>G ENSP00000438689.2:p.Val340Gly
ENST00000578824.5:n.99T>G
ENST00000581378.5:c.668T>G
ENST00000582379.1:n.334T>G
NM_000018.3:c.950T>G NP_000009.1:p.Val317Gly
NM_001033859.2:c.884T>G NP_001029031.1:p.Val295Gly
NM_001270447.1:c.1019T>G NP_001257376.1:p.Val340Gly
NM_001270448.1:c.722T>G NP_001257377.1:p.Val241Gly
XM_006721516.2:c.950T>G XP_006721579.2:p.Val317Gly
XM_011523829.1:c.950T>G XP_011522131.1:p.Val317Gly
XM_011523830.1:c.950T>G XP_011522132.1:p.Val317Gly
XR_934021.1:n.1057T>G
XR_934022.1:n.1057T>G
XR_934023.1:n.1057T>G
XM_006721516.3:c.950T>G XP_006721579.2:p.Val317Gly
XM_011523829.2:c.950T>G XP_011522131.1:p.Val317Gly
XM_011523830.2:c.950T>G XP_011522132.1:p.Val317Gly
XM_024450741.1:c.950T>G XP_024306509.1:p.Val317Gly
XR_934021.2:n.1009T>G
XR_934022.2:n.1009T>G
XR_934023.2:n.1009T>G
NM_000018.4:c.950T>G MANE Select NP_000009.1:p.Val317Gly
NM_001033859.3:c.884T>G NP_001029031.1:p.Val295Gly
NM_001270447.2:c.1019T>G NP_001257376.1:p.Val340Gly
NM_001270448.2:c.722T>G NP_001257377.1:p.Val241Gly
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