Canonical Allele Identifier: CA397723791
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125579T>G (hg19) chr17:g.7222260T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222260T>G , CM000679.2:g.7222260T>G GRCh38
NC_000017.10:g.7125579T>G , CM000679.1:g.7125579T>G GRCh37
NC_000017.9:g.7066303T>G NCBI36
NG_007975.1:g.7427T>G
NG_008391.2:g.2791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.836T>G MANE Select ENSP00000349297.5:p.Ile279Ser
ENST00000322910.9:c.*791T>G ENSP00000325395.5:n.*791T>G
ENST00000350303.9:c.770T>G ENSP00000344152.5:p.Ile257Ser
ENST00000356839.9:c.836T>G ENSP00000349297.5:p.Ile279Ser
ENST00000543245.6:c.905T>G ENSP00000438689.2:p.Ile302Ser
ENST00000577191.5:n.1008T>G
ENST00000581378.5:c.554T>G
ENST00000582379.1:n.220T>G
NM_000018.3:c.836T>G NP_000009.1:p.Ile279Ser
NM_001033859.2:c.770T>G NP_001029031.1:p.Ile257Ser
NM_001270447.1:c.905T>G NP_001257376.1:p.Ile302Ser
NM_001270448.1:c.608T>G NP_001257377.1:p.Ile203Ser
XM_006721516.2:c.836T>G XP_006721579.2:p.Ile279Ser
XM_011523829.1:c.836T>G XP_011522131.1:p.Ile279Ser
XM_011523830.1:c.836T>G XP_011522132.1:p.Ile279Ser
XR_934021.1:n.943T>G
XR_934022.1:n.943T>G
XR_934023.1:n.943T>G
XM_006721516.3:c.836T>G XP_006721579.2:p.Ile279Ser
XM_011523829.2:c.836T>G XP_011522131.1:p.Ile279Ser
XM_011523830.2:c.836T>G XP_011522132.1:p.Ile279Ser
XM_024450741.1:c.836T>G XP_024306509.1:p.Ile279Ser
XR_934021.2:n.895T>G
XR_934022.2:n.895T>G
XR_934023.2:n.895T>G
NM_000018.4:c.836T>G MANE Select NP_000009.1:p.Ile279Ser
NM_001033859.3:c.770T>G NP_001029031.1:p.Ile257Ser
NM_001270447.2:c.905T>G NP_001257376.1:p.Ile302Ser
NM_001270448.2:c.608T>G NP_001257377.1:p.Ile203Ser
Search 100 bp 5'
Search 100 bp 3'