Canonical Allele Identifier: CA397723219
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221646-G-T
MyVariant Identifiers: chr17:g.7124965G>T (hg19) chr17:g.7221646G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221646G>T , CM000679.2:g.7221646G>T GRCh38
NC_000017.10:g.7124965G>T , CM000679.1:g.7124965G>T GRCh37
NC_000017.9:g.7065689G>T NCBI36
NG_007975.1:g.6813G>T
NG_008391.2:g.3405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.586G>T MANE Select ENSP00000349297.5:p.Ala196Ser
ENST00000322910.9:c.*541G>T ENSP00000325395.5:n.*541G>T
ENST00000350303.9:c.520G>T ENSP00000344152.5:p.Ala174Ser
ENST00000356839.9:c.586G>T ENSP00000349297.5:p.Ala196Ser
ENST00000543245.6:c.655G>T ENSP00000438689.2:p.Ala219Ser
ENST00000577191.5:n.663G>T
ENST00000577433.5:n.794G>T
ENST00000577857.5:n.402G>T
ENST00000579286.5:n.767G>T
ENST00000579886.2:c.424G>T ENSP00000463246.1:p.Ala142Ser
ENST00000580365.1:n.317G>T
ENST00000581378.5:c.304G>T
ENST00000581562.5:n.525-306G>T
ENST00000583312.5:c.586G>T ENSP00000467920.1:p.Ala196Ser
ENST00000583760.1:n.368G>T
NM_000018.3:c.586G>T NP_000009.1:p.Ala196Ser
NM_001033859.2:c.520G>T NP_001029031.1:p.Ala174Ser
NM_001270447.1:c.655G>T NP_001257376.1:p.Ala219Ser
NM_001270448.1:c.358G>T NP_001257377.1:p.Ala120Ser
XM_006721516.2:c.586G>T XP_006721579.2:p.Ala196Ser
XM_011523829.1:c.586G>T XP_011522131.1:p.Ala196Ser
XM_011523830.1:c.586G>T XP_011522132.1:p.Ala196Ser
XR_934021.1:n.693G>T
XR_934022.1:n.693G>T
XR_934023.1:n.693G>T
XM_006721516.3:c.586G>T XP_006721579.2:p.Ala196Ser
XM_011523829.2:c.586G>T XP_011522131.1:p.Ala196Ser
XM_011523830.2:c.586G>T XP_011522132.1:p.Ala196Ser
XM_024450741.1:c.586G>T XP_024306509.1:p.Ala196Ser
XR_934021.2:n.645G>T
XR_934022.2:n.645G>T
XR_934023.2:n.645G>T
NM_000018.4:c.586G>T MANE Select NP_000009.1:p.Ala196Ser
NM_001033859.3:c.520G>T NP_001029031.1:p.Ala174Ser
NM_001270447.2:c.655G>T NP_001257376.1:p.Ala219Ser
NM_001270448.2:c.358G>T NP_001257377.1:p.Ala120Ser
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