Canonical Allele Identifier: CA397722417
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220646A>T , CM000679.2:g.7220646A>T GRCh38
NC_000017.10:g.7123965A>T , CM000679.1:g.7123965A>T GRCh37
NC_000017.9:g.7064689A>T NCBI36
NG_007975.1:g.5813A>T
NG_008391.2:g.4405T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.247A>T MANE Select ENSP00000349297.5:p.Thr83Ser
ENST00000322910.9:c.*202A>T ENSP00000325395.5:n.*202A>T
ENST00000350303.9:c.181A>T ENSP00000344152.5:p.Thr61Ser
ENST00000356839.9:c.247A>T ENSP00000349297.5:p.Thr83Ser
ENST00000543245.6:c.316A>T ENSP00000438689.2:p.Thr106Ser
ENST00000577191.5:n.324A>T
ENST00000577433.5:n.455A>T
ENST00000577857.5:n.229-120A>T
ENST00000578269.5:n.694A>T
ENST00000578421.1:n.455A>T
ENST00000579286.5:n.428A>T
ENST00000579886.2:c.201+120A>T ENSP00000463246.1:n.201+120A>T
ENST00000580263.5:n.411A>T
ENST00000581562.5:n.294A>T
ENST00000582056.5:n.337A>T
ENST00000582166.1:n.135A>T
ENST00000582356.5:n.446A>T
ENST00000583312.5:c.247A>T ENSP00000467920.1:p.Thr83Ser
ENST00000584103.5:c.247A>T ENSP00000465353.1:p.Thr83Ser
NM_000018.3:c.247A>T NP_000009.1:p.Thr83Ser
NM_001033859.2:c.181A>T NP_001029031.1:p.Thr61Ser
NM_001270447.1:c.316A>T NP_001257376.1:p.Thr106Ser
NM_001270448.1:c.19A>T NP_001257377.1:p.Thr7Ser
XM_006721516.2:c.247A>T XP_006721579.2:p.Thr83Ser
XM_011523829.1:c.247A>T XP_011522131.1:p.Thr83Ser
XM_011523830.1:c.247A>T XP_011522132.1:p.Thr83Ser
XR_934021.1:n.354A>T
XR_934022.1:n.354A>T
XR_934023.1:n.354A>T
XM_006721516.3:c.247A>T XP_006721579.2:p.Thr83Ser
XM_011523829.2:c.247A>T XP_011522131.1:p.Thr83Ser
XM_011523830.2:c.247A>T XP_011522132.1:p.Thr83Ser
XM_024450741.1:c.247A>T XP_024306509.1:p.Thr83Ser
XR_934021.2:n.306A>T
XR_934022.2:n.306A>T
XR_934023.2:n.306A>T
NM_000018.4:c.247A>T MANE Select NP_000009.1:p.Thr83Ser
NM_001033859.3:c.181A>T NP_001029031.1:p.Thr61Ser
NM_001270447.2:c.316A>T NP_001257376.1:p.Thr106Ser
NM_001270448.2:c.19A>T NP_001257377.1:p.Thr7Ser