Canonical Allele Identifier: CA397723391
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125298C>G (hg19) chr17:g.7221979C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221979C>G , CM000679.2:g.7221979C>G GRCh38
NC_000017.10:g.7125298C>G , CM000679.1:g.7125298C>G GRCh37
NC_000017.9:g.7066022C>G NCBI36
NG_007975.1:g.7146C>G
NG_008391.2:g.3072G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.650C>G MANE Select ENSP00000349297.5:p.Thr217Ser
ENST00000322910.9:c.*605C>G ENSP00000325395.5:n.*605C>G
ENST00000350303.9:c.584C>G ENSP00000344152.5:p.Thr195Ser
ENST00000356839.9:c.650C>G ENSP00000349297.5:p.Thr217Ser
ENST00000543245.6:c.719C>G ENSP00000438689.2:p.Thr240Ser
ENST00000577191.5:n.727C>G
ENST00000577857.5:n.466C>G
ENST00000579286.5:n.831C>G
ENST00000580365.1:n.381C>G
ENST00000581378.5:c.368C>G
ENST00000581562.5:n.552C>G
ENST00000582379.1:n.34C>G
ENST00000583312.5:c.665C>G ENSP00000467920.1:p.Thr222Ser
ENST00000583760.1:n.432C>G
NM_000018.3:c.650C>G NP_000009.1:p.Thr217Ser
NM_001033859.2:c.584C>G NP_001029031.1:p.Thr195Ser
NM_001270447.1:c.719C>G NP_001257376.1:p.Thr240Ser
NM_001270448.1:c.422C>G NP_001257377.1:p.Thr141Ser
XM_006721516.2:c.650C>G XP_006721579.2:p.Thr217Ser
XM_011523829.1:c.650C>G XP_011522131.1:p.Thr217Ser
XM_011523830.1:c.650C>G XP_011522132.1:p.Thr217Ser
XR_934021.1:n.757C>G
XR_934022.1:n.757C>G
XR_934023.1:n.757C>G
XM_006721516.3:c.650C>G XP_006721579.2:p.Thr217Ser
XM_011523829.2:c.650C>G XP_011522131.1:p.Thr217Ser
XM_011523830.2:c.650C>G XP_011522132.1:p.Thr217Ser
XM_024450741.1:c.650C>G XP_024306509.1:p.Thr217Ser
XR_934021.2:n.709C>G
XR_934022.2:n.709C>G
XR_934023.2:n.709C>G
NM_000018.4:c.650C>G MANE Select NP_000009.1:p.Thr217Ser
NM_001033859.3:c.584C>G NP_001029031.1:p.Thr195Ser
NM_001270447.2:c.719C>G NP_001257376.1:p.Thr240Ser
NM_001270448.2:c.422C>G NP_001257377.1:p.Thr141Ser
Search 100 bp 5'
Search 100 bp 3'