Canonical Allele Identifier: CA397722464

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123987A>G (hg19) ; chr17:g.7220668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220668A>G , CM000679.2:g.7220668A>G	GRCh38
NC_000017.10:g.7123987A>G , CM000679.1:g.7123987A>G	GRCh37
NC_000017.9:g.7064711A>G	NCBI36
NG_007975.1:g.5835A>G
NG_008391.2:g.4383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.269A>G MANE Select	ENSP00000349297.5:p.Tyr90Cys
ENST00000322910.9:c.*224A>G	ENSP00000325395.5:n.*224A>G
ENST00000350303.9:c.203A>G	ENSP00000344152.5:p.Tyr68Cys
ENST00000356839.9:c.269A>G	ENSP00000349297.5:p.Tyr90Cys
ENST00000543245.6:c.338A>G	ENSP00000438689.2:p.Tyr113Cys
ENST00000577191.5:n.346A>G
ENST00000577433.5:n.477A>G
ENST00000577857.5:n.229-98A>G
ENST00000578269.5:n.716A>G
ENST00000578421.1:n.477A>G
ENST00000579286.5:n.450A>G
ENST00000579886.2:c.201+142A>G	ENSP00000463246.1:n.201+142A>G
ENST00000580263.5:n.433A>G
ENST00000581562.5:n.316A>G
ENST00000582056.5:n.359A>G
ENST00000582166.1:n.157A>G
ENST00000582356.5:n.468A>G
ENST00000583312.5:c.269A>G	ENSP00000467920.1:p.Tyr90Cys
ENST00000584103.5:c.269A>G	ENSP00000465353.1:p.Tyr90Cys
NM_000018.3:c.269A>G	NP_000009.1:p.Tyr90Cys
NM_001033859.2:c.203A>G	NP_001029031.1:p.Tyr68Cys
NM_001270447.1:c.338A>G	NP_001257376.1:p.Tyr113Cys
NM_001270448.1:c.41A>G	NP_001257377.1:p.Tyr14Cys
XM_006721516.2:c.269A>G	XP_006721579.2:p.Tyr90Cys
XM_011523829.1:c.269A>G	XP_011522131.1:p.Tyr90Cys
XM_011523830.1:c.269A>G	XP_011522132.1:p.Tyr90Cys
XR_934021.1:n.376A>G
XR_934022.1:n.376A>G
XR_934023.1:n.376A>G
XM_006721516.3:c.269A>G	XP_006721579.2:p.Tyr90Cys
XM_011523829.2:c.269A>G	XP_011522131.1:p.Tyr90Cys
XM_011523830.2:c.269A>G	XP_011522132.1:p.Tyr90Cys
XM_024450741.1:c.269A>G	XP_024306509.1:p.Tyr90Cys
XR_934021.2:n.328A>G
XR_934022.2:n.328A>G
XR_934023.2:n.328A>G
NM_000018.4:c.269A>G MANE Select	NP_000009.1:p.Tyr90Cys
NM_001033859.3:c.203A>G	NP_001029031.1:p.Tyr68Cys
NM_001270447.2:c.338A>G	NP_001257376.1:p.Tyr113Cys
NM_001270448.2:c.41A>G	NP_001257377.1:p.Tyr14Cys