Canonical Allele Identifier: CA397724323

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126458C>T (hg19) ; chr17:g.7223139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223139C>T , CM000679.2:g.7223139C>T	GRCh38
NC_000017.10:g.7126458C>T , CM000679.1:g.7126458C>T	GRCh37
NC_000017.9:g.7067182C>T	NCBI36
NG_007975.1:g.8306C>T
NG_008391.2:g.1912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1084C>T MANE Select	ENSP00000349297.5:p.His362Tyr
ENST00000322910.9:c.*1039C>T	ENSP00000325395.5:n.*1039C>T
ENST00000350303.9:c.1018C>T	ENSP00000344152.5:p.His340Tyr
ENST00000356839.9:c.1084C>T	ENSP00000349297.5:p.His362Tyr
ENST00000543245.6:c.1153C>T	ENSP00000438689.2:p.His385Tyr
ENST00000578579.2:n.33C>T
ENST00000578824.5:n.500C>T
ENST00000579425.5:n.108C>T
ENST00000582379.1:n.735C>T
ENST00000583858.5:c.113C>T
ENST00000585203.6:n.292C>T
NM_000018.3:c.1084C>T	NP_000009.1:p.His362Tyr
NM_001033859.2:c.1018C>T	NP_001029031.1:p.His340Tyr
NM_001270447.1:c.1153C>T	NP_001257376.1:p.His385Tyr
NM_001270448.1:c.856C>T	NP_001257377.1:p.His286Tyr
XM_006721516.2:c.1084C>T	XP_006721579.2:p.His362Tyr
XM_011523829.1:c.1084C>T	XP_011522131.1:p.His362Tyr
XM_011523830.1:c.1084C>T	XP_011522132.1:p.His362Tyr
XR_934021.1:n.1191C>T
XR_934022.1:n.1191C>T
XR_934023.1:n.1191C>T
XM_006721516.3:c.1084C>T	XP_006721579.2:p.His362Tyr
XM_011523829.2:c.1084C>T	XP_011522131.1:p.His362Tyr
XM_011523830.2:c.1084C>T	XP_011522132.1:p.His362Tyr
XM_024450741.1:c.1084C>T	XP_024306509.1:p.His362Tyr
XR_934021.2:n.1143C>T
XR_934022.2:n.1143C>T
XR_934023.2:n.1143C>T
NM_000018.4:c.1084C>T MANE Select	NP_000009.1:p.His362Tyr
NM_001033859.3:c.1018C>T	NP_001029031.1:p.His340Tyr
NM_001270447.2:c.1153C>T	NP_001257376.1:p.His385Tyr
NM_001270448.2:c.856C>T	NP_001257377.1:p.His286Tyr