Canonical Allele Identifier: CA397724585
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126982G>T (hg19) chr17:g.7223663G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223663G>T , CM000679.2:g.7223663G>T GRCh38
NC_000017.10:g.7126982G>T , CM000679.1:g.7126982G>T GRCh37
NC_000017.9:g.7067706G>T NCBI36
NG_007975.1:g.8830G>T
NG_008391.2:g.1388C>A
NG_033038.1:g.15882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1202G>T MANE Select ENSP00000349297.5:p.Ser401Ile
ENST00000322910.9:c.*1157G>T ENSP00000325395.5:n.*1157G>T
ENST00000350303.9:c.1136G>T ENSP00000344152.5:p.Ser379Ile
ENST00000356839.9:c.1202G>T ENSP00000349297.5:p.Ser401Ile
ENST00000542255.6:c.60G>T
ENST00000543245.6:c.1271G>T ENSP00000438689.2:p.Ser424Ile
ENST00000578579.2:n.373G>T
ENST00000578711.1:n.159G>T
ENST00000578824.5:n.618G>T
ENST00000579425.5:n.226G>T
ENST00000579546.1:c.39G>T
ENST00000583858.5:c.231G>T
ENST00000585203.6:n.410G>T
NM_000018.3:c.1202G>T NP_000009.1:p.Ser401Ile
NM_001033859.2:c.1136G>T NP_001029031.1:p.Ser379Ile
NM_001270447.1:c.1271G>T NP_001257376.1:p.Ser424Ile
NM_001270448.1:c.974G>T NP_001257377.1:p.Ser325Ile
XM_006721516.2:c.1202G>T XP_006721579.2:p.Ser401Ile
XM_011523829.1:c.1202G>T XP_011522131.1:p.Ser401Ile
XM_011523830.1:c.1202G>T XP_011522132.1:p.Ser401Ile
XR_934021.1:n.1309G>T
XR_934022.1:n.1309G>T
XR_934023.1:n.1309G>T
XM_006721516.3:c.1202G>T XP_006721579.2:p.Ser401Ile
XM_011523829.2:c.1202G>T XP_011522131.1:p.Ser401Ile
XM_011523830.2:c.1202G>T XP_011522132.1:p.Ser401Ile
XM_024450741.1:c.1202G>T XP_024306509.1:p.Ser401Ile
XR_934021.2:n.1261G>T
XR_934022.2:n.1261G>T
XR_934023.2:n.1261G>T
NM_000018.4:c.1202G>T MANE Select NP_000009.1:p.Ser401Ile
NM_001033859.3:c.1136G>T NP_001029031.1:p.Ser379Ile
NM_001270447.2:c.1271G>T NP_001257376.1:p.Ser424Ile
NM_001270448.2:c.974G>T NP_001257377.1:p.Ser325Ile
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