Canonical Allele Identifier: CA497619710
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124895T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221576T>C , CM000679.2:g.7221576T>C GRCh38
NC_000017.10:g.7124895T>C , CM000679.1:g.7124895T>C GRCh37
NC_000017.9:g.7065619T>C NCBI36
NG_007975.1:g.6743T>C
NG_008391.2:g.3475A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.516T>C MANE Select ENSP00000349297.5:p.Leu172=
ENST00000322910.9:c.*471T>C ENSP00000325395.5:n.*471T>C
ENST00000350303.9:c.450T>C ENSP00000344152.5:p.Leu150=
ENST00000356839.9:c.516T>C ENSP00000349297.5:p.Leu172=
ENST00000543245.6:c.585T>C ENSP00000438689.2:p.Leu195=
ENST00000577191.5:n.593T>C
ENST00000577433.5:n.724T>C
ENST00000577857.5:n.332T>C
ENST00000579286.5:n.697T>C
ENST00000579886.2:c.354T>C ENSP00000463246.1:p.Leu118=
ENST00000580365.1:n.247T>C
ENST00000581378.5:c.234T>C
ENST00000581562.5:n.525-376T>C
ENST00000582166.1:n.497T>C
ENST00000583312.5:c.516T>C ENSP00000467920.1:p.Leu172=
ENST00000583760.1:n.298T>C
NM_000018.3:c.516T>C NP_000009.1:p.Leu172=
NM_001033859.2:c.450T>C NP_001029031.1:p.Leu150=
NM_001270447.1:c.585T>C NP_001257376.1:p.Leu195=
NM_001270448.1:c.288T>C NP_001257377.1:p.Leu96=
XM_006721516.2:c.516T>C XP_006721579.2:p.Leu172=
XM_011523829.1:c.516T>C XP_011522131.1:p.Leu172=
XM_011523830.1:c.516T>C XP_011522132.1:p.Leu172=
XR_934021.1:n.623T>C
XR_934022.1:n.623T>C
XR_934023.1:n.623T>C
XM_006721516.3:c.516T>C XP_006721579.2:p.Leu172=
XM_011523829.2:c.516T>C XP_011522131.1:p.Leu172=
XM_011523830.2:c.516T>C XP_011522132.1:p.Leu172=
XM_024450741.1:c.516T>C XP_024306509.1:p.Leu172=
XR_934021.2:n.575T>C
XR_934022.2:n.575T>C
XR_934023.2:n.575T>C
NM_000018.4:c.516T>C MANE Select NP_000009.1:p.Leu172=
NM_001033859.3:c.450T>C NP_001029031.1:p.Leu150=
NM_001270447.2:c.585T>C NP_001257376.1:p.Leu195=
NM_001270448.2:c.288T>C NP_001257377.1:p.Leu96=
Search 100 bp 5'
Search 100 bp 3'