Canonical Allele Identifier: CA397723277
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs747347662
gnomAD v2: 17-7124992-C-A
gnomAD v4: 17-7221673-C-A
MyVariant Identifiers: chr17:g.7124992C>A (hg19) chr17:g.7221673C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221673C>A , CM000679.2:g.7221673C>A GRCh38
NC_000017.10:g.7124992C>A , CM000679.1:g.7124992C>A GRCh37
NC_000017.9:g.7065716C>A NCBI36
NG_007975.1:g.6840C>A
NG_008391.2:g.3378G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.613C>A MANE Select ENSP00000349297.5:p.Leu205Met
ENST00000322910.9:c.*568C>A ENSP00000325395.5:n.*568C>A
ENST00000350303.9:c.547C>A ENSP00000344152.5:p.Leu183Met
ENST00000356839.9:c.613C>A ENSP00000349297.5:p.Leu205Met
ENST00000543245.6:c.682C>A ENSP00000438689.2:p.Leu228Met
ENST00000577191.5:n.690C>A
ENST00000577857.5:n.429C>A
ENST00000579286.5:n.794C>A
ENST00000579886.2:c.451C>A ENSP00000463246.1:p.Leu151Met
ENST00000580365.1:n.344C>A
ENST00000581378.5:c.331C>A
ENST00000581562.5:n.525-279C>A
ENST00000583312.5:c.613C>A ENSP00000467920.1:p.Leu205Met
ENST00000583760.1:n.395C>A
NM_000018.3:c.613C>A NP_000009.1:p.Leu205Met
NM_001033859.2:c.547C>A NP_001029031.1:p.Leu183Met
NM_001270447.1:c.682C>A NP_001257376.1:p.Leu228Met
NM_001270448.1:c.385C>A NP_001257377.1:p.Leu129Met
XM_006721516.2:c.613C>A XP_006721579.2:p.Leu205Met
XM_011523829.1:c.613C>A XP_011522131.1:p.Leu205Met
XM_011523830.1:c.613C>A XP_011522132.1:p.Leu205Met
XR_934021.1:n.720C>A
XR_934022.1:n.720C>A
XR_934023.1:n.720C>A
XM_006721516.3:c.613C>A XP_006721579.2:p.Leu205Met
XM_011523829.2:c.613C>A XP_011522131.1:p.Leu205Met
XM_011523830.2:c.613C>A XP_011522132.1:p.Leu205Met
XM_024450741.1:c.613C>A XP_024306509.1:p.Leu205Met
XR_934021.2:n.672C>A
XR_934022.2:n.672C>A
XR_934023.2:n.672C>A
NM_000018.4:c.613C>A MANE Select NP_000009.1:p.Leu205Met
NM_001033859.3:c.547C>A NP_001029031.1:p.Leu183Met
NM_001270447.2:c.682C>A NP_001257376.1:p.Leu228Met
NM_001270448.2:c.385C>A NP_001257377.1:p.Leu129Met
Search 100 bp 5'
Search 100 bp 3'