Canonical Allele Identifier: CA397725448
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1453818885
gnomAD v2: 17-7127702-G-T
gnomAD v4: 17-7224383-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224383G>T , CM000679.2:g.7224383G>T GRCh38
NC_000017.10:g.7127702G>T , CM000679.1:g.7127702G>T GRCh37
NC_000017.9:g.7068426G>T NCBI36
NG_007975.1:g.9550G>T
NG_008391.2:g.668C>A
NG_033038.1:g.15162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1595G>T MANE Select ENSP00000349297.5:p.Ser532Ile
ENST00000322910.9:c.*1550G>T ENSP00000325395.5:n.*1550G>T
ENST00000350303.9:c.1529G>T ENSP00000344152.5:p.Ser510Ile
ENST00000356839.9:c.1595G>T ENSP00000349297.5:p.Ser532Ile
ENST00000542255.6:c.453G>T
ENST00000543245.6:c.1664G>T ENSP00000438689.2:p.Ser555Ile
ENST00000578319.5:n.90G>T
ENST00000578711.1:n.879G>T
ENST00000578809.5:n.167G>T
ENST00000579391.1:n.203G>T
ENST00000579425.5:n.711G>T
ENST00000579546.1:c.334G>T
ENST00000579894.5:n.382G>T
ENST00000582450.1:n.103G>T
ENST00000583074.5:n.216G>T
ENST00000583850.5:n.370G>T
ENST00000583858.5:c.526G>T
ENST00000585203.6:n.786G>T
NM_000018.3:c.1595G>T NP_000009.1:p.Ser532Ile
NM_001033859.2:c.1529G>T NP_001029031.1:p.Ser510Ile
NM_001270447.1:c.1664G>T NP_001257376.1:p.Ser555Ile
NM_001270448.1:c.1367G>T NP_001257377.1:p.Ser456Ile
XM_006721516.2:c.1595G>T XP_006721579.2:p.Ser532Ile
XM_011523829.1:c.1497G>T XP_011522131.1:p.Glu499Asp
XM_011523830.1:c.1497G>T XP_011522132.1:p.Glu499Asp
XR_934021.1:n.1702G>T
XR_934022.1:n.1604G>T
XR_934023.1:n.1604G>T
XM_006721516.3:c.1595G>T XP_006721579.2:p.Ser532Ile
XM_011523829.2:c.1497G>T XP_011522131.1:p.Glu499Asp
XM_011523830.2:c.1497G>T XP_011522132.1:p.Glu499Asp
XM_024450741.1:c.1497G>T XP_024306509.1:p.Glu499Asp
XR_934021.2:n.1654G>T
XR_934022.2:n.1556G>T
XR_934023.2:n.1556G>T
NM_000018.4:c.1595G>T MANE Select NP_000009.1:p.Ser532Ile
NM_001033859.3:c.1529G>T NP_001029031.1:p.Ser510Ile
NM_001270447.2:c.1664G>T NP_001257376.1:p.Ser555Ile
NM_001270448.2:c.1367G>T NP_001257377.1:p.Ser456Ile