Canonical Allele Identifier: CA397723252
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124979A>T (hg19) chr17:g.7221660A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221660A>T , CM000679.2:g.7221660A>T GRCh38
NC_000017.10:g.7124979A>T , CM000679.1:g.7124979A>T GRCh37
NC_000017.9:g.7065703A>T NCBI36
NG_007975.1:g.6827A>T
NG_008391.2:g.3391T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.600A>T MANE Select ENSP00000349297.5:p.Lys200Asn
ENST00000322910.9:c.*555A>T ENSP00000325395.5:n.*555A>T
ENST00000350303.9:c.534A>T ENSP00000344152.5:p.Lys178Asn
ENST00000356839.9:c.600A>T ENSP00000349297.5:p.Lys200Asn
ENST00000543245.6:c.669A>T ENSP00000438689.2:p.Lys223Asn
ENST00000577191.5:n.677A>T
ENST00000577857.5:n.416A>T
ENST00000579286.5:n.781A>T
ENST00000579886.2:c.438A>T ENSP00000463246.1:p.Lys146Asn
ENST00000580365.1:n.331A>T
ENST00000581378.5:c.318A>T
ENST00000581562.5:n.525-292A>T
ENST00000583312.5:c.600A>T ENSP00000467920.1:p.Lys200Asn
ENST00000583760.1:n.382A>T
NM_000018.3:c.600A>T NP_000009.1:p.Lys200Asn
NM_001033859.2:c.534A>T NP_001029031.1:p.Lys178Asn
NM_001270447.1:c.669A>T NP_001257376.1:p.Lys223Asn
NM_001270448.1:c.372A>T NP_001257377.1:p.Lys124Asn
XM_006721516.2:c.600A>T XP_006721579.2:p.Lys200Asn
XM_011523829.1:c.600A>T XP_011522131.1:p.Lys200Asn
XM_011523830.1:c.600A>T XP_011522132.1:p.Lys200Asn
XR_934021.1:n.707A>T
XR_934022.1:n.707A>T
XR_934023.1:n.707A>T
XM_006721516.3:c.600A>T XP_006721579.2:p.Lys200Asn
XM_011523829.2:c.600A>T XP_011522131.1:p.Lys200Asn
XM_011523830.2:c.600A>T XP_011522132.1:p.Lys200Asn
XM_024450741.1:c.600A>T XP_024306509.1:p.Lys200Asn
XR_934021.2:n.659A>T
XR_934022.2:n.659A>T
XR_934023.2:n.659A>T
NM_000018.4:c.600A>T MANE Select NP_000009.1:p.Lys200Asn
NM_001033859.3:c.534A>T NP_001029031.1:p.Lys178Asn
NM_001270447.2:c.669A>T NP_001257376.1:p.Lys223Asn
NM_001270448.2:c.372A>T NP_001257377.1:p.Lys124Asn
Search 100 bp 5'
Search 100 bp 3'