Canonical Allele Identifier: CA397723264
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124986C>A (hg19) chr17:g.7221667C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221667C>A , CM000679.2:g.7221667C>A GRCh38
NC_000017.10:g.7124986C>A , CM000679.1:g.7124986C>A GRCh37
NC_000017.9:g.7065710C>A NCBI36
NG_007975.1:g.6834C>A
NG_008391.2:g.3384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.607C>A MANE Select ENSP00000349297.5:p.Pro203Thr
ENST00000322910.9:c.*562C>A ENSP00000325395.5:n.*562C>A
ENST00000350303.9:c.541C>A ENSP00000344152.5:p.Pro181Thr
ENST00000356839.9:c.607C>A ENSP00000349297.5:p.Pro203Thr
ENST00000543245.6:c.676C>A ENSP00000438689.2:p.Pro226Thr
ENST00000577191.5:n.684C>A
ENST00000577857.5:n.423C>A
ENST00000579286.5:n.788C>A
ENST00000579886.2:c.445C>A ENSP00000463246.1:p.Pro149Thr
ENST00000580365.1:n.338C>A
ENST00000581378.5:c.325C>A
ENST00000581562.5:n.525-285C>A
ENST00000583312.5:c.607C>A ENSP00000467920.1:p.Pro203Thr
ENST00000583760.1:n.389C>A
NM_000018.3:c.607C>A NP_000009.1:p.Pro203Thr
NM_001033859.2:c.541C>A NP_001029031.1:p.Pro181Thr
NM_001270447.1:c.676C>A NP_001257376.1:p.Pro226Thr
NM_001270448.1:c.379C>A NP_001257377.1:p.Pro127Thr
XM_006721516.2:c.607C>A XP_006721579.2:p.Pro203Thr
XM_011523829.1:c.607C>A XP_011522131.1:p.Pro203Thr
XM_011523830.1:c.607C>A XP_011522132.1:p.Pro203Thr
XR_934021.1:n.714C>A
XR_934022.1:n.714C>A
XR_934023.1:n.714C>A
XM_006721516.3:c.607C>A XP_006721579.2:p.Pro203Thr
XM_011523829.2:c.607C>A XP_011522131.1:p.Pro203Thr
XM_011523830.2:c.607C>A XP_011522132.1:p.Pro203Thr
XM_024450741.1:c.607C>A XP_024306509.1:p.Pro203Thr
XR_934021.2:n.666C>A
XR_934022.2:n.666C>A
XR_934023.2:n.666C>A
NM_000018.4:c.607C>A MANE Select NP_000009.1:p.Pro203Thr
NM_001033859.3:c.541C>A NP_001029031.1:p.Pro181Thr
NM_001270447.2:c.676C>A NP_001257376.1:p.Pro226Thr
NM_001270448.2:c.379C>A NP_001257377.1:p.Pro127Thr
Search 100 bp 5'
Search 100 bp 3'