Canonical Allele Identifier: CA397723491
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222030-C-T
MyVariant Identifiers: chr17:g.7125349C>T (hg19) chr17:g.7222030C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222030C>T , CM000679.2:g.7222030C>T GRCh38
NC_000017.10:g.7125349C>T , CM000679.1:g.7125349C>T GRCh37
NC_000017.9:g.7066073C>T NCBI36
NG_007975.1:g.7197C>T
NG_008391.2:g.3021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.701C>T MANE Select ENSP00000349297.5:p.Pro234Leu
ENST00000322910.9:c.*656C>T ENSP00000325395.5:n.*656C>T
ENST00000350303.9:c.635C>T ENSP00000344152.5:p.Pro212Leu
ENST00000356839.9:c.701C>T ENSP00000349297.5:p.Pro234Leu
ENST00000543245.6:c.770C>T ENSP00000438689.2:p.Pro257Leu
ENST00000577191.5:n.778C>T
ENST00000577857.5:n.517C>T
ENST00000579286.5:n.882C>T
ENST00000580365.1:n.432C>T
ENST00000581378.5:c.419C>T
ENST00000582379.1:n.85C>T
ENST00000583760.1:n.483C>T
NM_000018.3:c.701C>T NP_000009.1:p.Pro234Leu
NM_001033859.2:c.635C>T NP_001029031.1:p.Pro212Leu
NM_001270447.1:c.770C>T NP_001257376.1:p.Pro257Leu
NM_001270448.1:c.473C>T NP_001257377.1:p.Pro158Leu
XM_006721516.2:c.701C>T XP_006721579.2:p.Pro234Leu
XM_011523829.1:c.701C>T XP_011522131.1:p.Pro234Leu
XM_011523830.1:c.701C>T XP_011522132.1:p.Pro234Leu
XR_934021.1:n.808C>T
XR_934022.1:n.808C>T
XR_934023.1:n.808C>T
XM_006721516.3:c.701C>T XP_006721579.2:p.Pro234Leu
XM_011523829.2:c.701C>T XP_011522131.1:p.Pro234Leu
XM_011523830.2:c.701C>T XP_011522132.1:p.Pro234Leu
XM_024450741.1:c.701C>T XP_024306509.1:p.Pro234Leu
XR_934021.2:n.760C>T
XR_934022.2:n.760C>T
XR_934023.2:n.760C>T
NM_000018.4:c.701C>T MANE Select NP_000009.1:p.Pro234Leu
NM_001033859.3:c.635C>T NP_001029031.1:p.Pro212Leu
NM_001270447.2:c.770C>T NP_001257376.1:p.Pro257Leu
NM_001270448.2:c.473C>T NP_001257377.1:p.Pro158Leu
Search 100 bp 5'
Search 100 bp 3'