Canonical Allele Identifier: CA397724342

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126467A>T (hg19) ; chr17:g.7223148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223148A>T , CM000679.2:g.7223148A>T	GRCh38
NC_000017.10:g.7126467A>T , CM000679.1:g.7126467A>T	GRCh37
NC_000017.9:g.7067191A>T	NCBI36
NG_007975.1:g.8315A>T
NG_008391.2:g.1903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1093A>T MANE Select	ENSP00000349297.5:p.Asn365Tyr
ENST00000322910.9:c.*1048A>T	ENSP00000325395.5:n.*1048A>T
ENST00000350303.9:c.1027A>T	ENSP00000344152.5:p.Asn343Tyr
ENST00000356839.9:c.1093A>T	ENSP00000349297.5:p.Asn365Tyr
ENST00000543245.6:c.1162A>T	ENSP00000438689.2:p.Asn388Tyr
ENST00000578579.2:n.42A>T
ENST00000578824.5:n.509A>T
ENST00000579425.5:n.117A>T
ENST00000582379.1:n.744A>T
ENST00000583858.5:c.122A>T
ENST00000585203.6:n.301A>T
NM_000018.3:c.1093A>T	NP_000009.1:p.Asn365Tyr
NM_001033859.2:c.1027A>T	NP_001029031.1:p.Asn343Tyr
NM_001270447.1:c.1162A>T	NP_001257376.1:p.Asn388Tyr
NM_001270448.1:c.865A>T	NP_001257377.1:p.Asn289Tyr
XM_006721516.2:c.1093A>T	XP_006721579.2:p.Asn365Tyr
XM_011523829.1:c.1093A>T	XP_011522131.1:p.Asn365Tyr
XM_011523830.1:c.1093A>T	XP_011522132.1:p.Asn365Tyr
XR_934021.1:n.1200A>T
XR_934022.1:n.1200A>T
XR_934023.1:n.1200A>T
XM_006721516.3:c.1093A>T	XP_006721579.2:p.Asn365Tyr
XM_011523829.2:c.1093A>T	XP_011522131.1:p.Asn365Tyr
XM_011523830.2:c.1093A>T	XP_011522132.1:p.Asn365Tyr
XM_024450741.1:c.1093A>T	XP_024306509.1:p.Asn365Tyr
XR_934021.2:n.1152A>T
XR_934022.2:n.1152A>T
XR_934023.2:n.1152A>T
NM_000018.4:c.1093A>T MANE Select	NP_000009.1:p.Asn365Tyr
NM_001033859.3:c.1027A>T	NP_001029031.1:p.Asn343Tyr
NM_001270447.2:c.1162A>T	NP_001257376.1:p.Asn388Tyr
NM_001270448.2:c.865A>T	NP_001257377.1:p.Asn289Tyr