Canonical Allele Identifier: CA497694070
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126971T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223652T>G , CM000679.2:g.7223652T>G GRCh38
NC_000017.10:g.7126971T>G , CM000679.1:g.7126971T>G GRCh37
NC_000017.9:g.7067695T>G NCBI36
NG_007975.1:g.8819T>G
NG_008391.2:g.1399A>C
NG_033038.1:g.15893A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1191T>G MANE Select ENSP00000349297.5:p.Ala397=
ENST00000322910.9:c.*1146T>G ENSP00000325395.5:n.*1146T>G
ENST00000350303.9:c.1125T>G ENSP00000344152.5:p.Ala375=
ENST00000356839.9:c.1191T>G ENSP00000349297.5:p.Ala397=
ENST00000542255.6:c.49T>G
ENST00000543245.6:c.1260T>G ENSP00000438689.2:p.Ala420=
ENST00000578579.2:n.362T>G
ENST00000578711.1:n.148T>G
ENST00000578824.5:n.607T>G
ENST00000579425.5:n.215T>G
ENST00000579546.1:c.28T>G
ENST00000583858.5:c.220T>G
ENST00000585203.6:n.399T>G
NM_000018.3:c.1191T>G NP_000009.1:p.Ala397=
NM_001033859.2:c.1125T>G NP_001029031.1:p.Ala375=
NM_001270447.1:c.1260T>G NP_001257376.1:p.Ala420=
NM_001270448.1:c.963T>G NP_001257377.1:p.Ala321=
XM_006721516.2:c.1191T>G XP_006721579.2:p.Ala397=
XM_011523829.1:c.1191T>G XP_011522131.1:p.Ala397=
XM_011523830.1:c.1191T>G XP_011522132.1:p.Ala397=
XR_934021.1:n.1298T>G
XR_934022.1:n.1298T>G
XR_934023.1:n.1298T>G
XM_006721516.3:c.1191T>G XP_006721579.2:p.Ala397=
XM_011523829.2:c.1191T>G XP_011522131.1:p.Ala397=
XM_011523830.2:c.1191T>G XP_011522132.1:p.Ala397=
XM_024450741.1:c.1191T>G XP_024306509.1:p.Ala397=
XR_934021.2:n.1250T>G
XR_934022.2:n.1250T>G
XR_934023.2:n.1250T>G
NM_000018.4:c.1191T>G MANE Select NP_000009.1:p.Ala397=
NM_001033859.3:c.1125T>G NP_001029031.1:p.Ala375=
NM_001270447.2:c.1260T>G NP_001257376.1:p.Ala420=
NM_001270448.2:c.963T>G NP_001257377.1:p.Ala321=
Search 100 bp 5'
Search 100 bp 3'