Canonical Allele Identifier: CA397723292
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125001G>T (hg19) chr17:g.7221682G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221682G>T , CM000679.2:g.7221682G>T GRCh38
NC_000017.10:g.7125001G>T , CM000679.1:g.7125001G>T GRCh37
NC_000017.9:g.7065725G>T NCBI36
NG_007975.1:g.6849G>T
NG_008391.2:g.3369C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622G>T MANE Select ENSP00000349297.5:p.Gly208Trp
ENST00000322910.9:c.*577G>T ENSP00000325395.5:n.*577G>T
ENST00000350303.9:c.556G>T ENSP00000344152.5:p.Gly186Trp
ENST00000356839.9:c.622G>T ENSP00000349297.5:p.Gly208Trp
ENST00000543245.6:c.691G>T ENSP00000438689.2:p.Gly231Trp
ENST00000577191.5:n.699G>T
ENST00000577857.5:n.438G>T
ENST00000579286.5:n.803G>T
ENST00000579886.2:c.460G>T ENSP00000463246.1:p.Gly154Trp
ENST00000580365.1:n.353G>T
ENST00000581378.5:c.340G>T
ENST00000581562.5:n.525-270G>T
ENST00000583312.5:c.622G>T ENSP00000467920.1:p.Ala208Ser
ENST00000583760.1:n.404G>T
NM_000018.3:c.622G>T NP_000009.1:p.Gly208Trp
NM_001033859.2:c.556G>T NP_001029031.1:p.Gly186Trp
NM_001270447.1:c.691G>T NP_001257376.1:p.Gly231Trp
NM_001270448.1:c.394G>T NP_001257377.1:p.Gly132Trp
XM_006721516.2:c.622G>T XP_006721579.2:p.Gly208Trp
XM_011523829.1:c.622G>T XP_011522131.1:p.Gly208Trp
XM_011523830.1:c.622G>T XP_011522132.1:p.Gly208Trp
XR_934021.1:n.729G>T
XR_934022.1:n.729G>T
XR_934023.1:n.729G>T
XM_006721516.3:c.622G>T XP_006721579.2:p.Gly208Trp
XM_011523829.2:c.622G>T XP_011522131.1:p.Gly208Trp
XM_011523830.2:c.622G>T XP_011522132.1:p.Gly208Trp
XM_024450741.1:c.622G>T XP_024306509.1:p.Gly208Trp
XR_934021.2:n.681G>T
XR_934022.2:n.681G>T
XR_934023.2:n.681G>T
NM_000018.4:c.622G>T MANE Select NP_000009.1:p.Gly208Trp
NM_001033859.3:c.556G>T NP_001029031.1:p.Gly186Trp
NM_001270447.2:c.691G>T NP_001257376.1:p.Gly231Trp
NM_001270448.2:c.394G>T NP_001257377.1:p.Gly132Trp
Search 100 bp 5'
Search 100 bp 3'