Canonical Allele Identifier: CA16041858
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 371107
ClinVar RCV Id: RCV000412197
dbSNP Id: rs1057517012

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220677G>T , CM000679.2:g.7220677G>T GRCh38
NC_000017.10:g.7123996G>T , CM000679.1:g.7123996G>T GRCh37
NC_000017.9:g.7064720G>T NCBI36
NG_007975.1:g.5844G>T
NG_008391.2:g.4374C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.277+1G>T MANE Select ENSP00000349297.5:n.277+1G>T
ENST00000322910.9:c.*232+1G>T ENSP00000325395.5:n.*232+1G>T
ENST00000350303.9:c.211+1G>T ENSP00000344152.5:n.211+1G>T
ENST00000356839.9:c.277+1G>T ENSP00000349297.5:n.277+1G>T
ENST00000543245.6:c.346+1G>T ENSP00000438689.2:n.346+1G>T
ENST00000577191.5:n.354+1G>T
ENST00000577433.5:n.485+1G>T
ENST00000577857.5:n.229-89G>T
ENST00000578421.1:n.486G>T
ENST00000579286.5:n.458+1G>T
ENST00000579886.2:c.201+151G>T ENSP00000463246.1:n.201+151G>T
ENST00000580263.5:n.442G>T
ENST00000581562.5:n.324+1G>T
ENST00000582056.5:n.367+1G>T
ENST00000582166.1:n.165+1G>T
ENST00000582356.5:n.476+1G>T
ENST00000583312.5:c.277+1G>T ENSP00000467920.1:n.277+1G>T
ENST00000584103.5:c.277+1G>T ENSP00000465353.1:n.277+1G>T
NM_000018.3:c.277+1G>T NP_000009.1:n.277+1G>T
NM_001033859.2:c.211+1G>T NP_001029031.1:n.211+1G>T
NM_001270447.1:c.346+1G>T NP_001257376.1:n.346+1G>T
NM_001270448.1:c.49+1G>T NP_001257377.1:n.49+1G>T
XM_006721516.2:c.277+1G>T XP_006721579.2:n.277+1G>T
XM_011523829.1:c.277+1G>T XP_011522131.1:n.277+1G>T
XM_011523830.1:c.277+1G>T XP_011522132.1:n.277+1G>T
XR_934021.1:n.384+1G>T
XR_934022.1:n.384+1G>T
XR_934023.1:n.384+1G>T
XM_006721516.3:c.277+1G>T XP_006721579.2:n.277+1G>T
XM_011523829.2:c.277+1G>T XP_011522131.1:n.277+1G>T
XM_011523830.2:c.277+1G>T XP_011522132.1:n.277+1G>T
XM_024450741.1:c.277+1G>T XP_024306509.1:n.277+1G>T
XR_934021.2:n.336+1G>T
XR_934022.2:n.336+1G>T
XR_934023.2:n.336+1G>T
NM_000018.4:c.277+1G>T MANE Select NP_000009.1:n.277+1G>T
NM_001033859.3:c.211+1G>T NP_001029031.1:n.211+1G>T
NM_001270447.2:c.346+1G>T NP_001257376.1:n.346+1G>T
NM_001270448.2:c.49+1G>T NP_001257377.1:n.49+1G>T