Canonical Allele Identifier: CA497693982

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220815-G-C
• MyVariant Identifiers: chr17:g.7124134G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220815G>C , CM000679.2:g.7220815G>C	GRCh38
NC_000017.10:g.7124134G>C , CM000679.1:g.7124134G>C	GRCh37
NC_000017.9:g.7064858G>C	NCBI36
NG_007975.1:g.5982G>C
NG_008391.2:g.4236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.327G>C MANE Select	ENSP00000349297.5:p.Val109=
ENST00000322910.9:c.*282G>C	ENSP00000325395.5:n.*282G>C
ENST00000350303.9:c.261G>C	ENSP00000344152.5:p.Val87=
ENST00000356839.9:c.327G>C	ENSP00000349297.5:p.Val109=
ENST00000543245.6:c.396G>C	ENSP00000438689.2:p.Val132=
ENST00000577191.5:n.404G>C
ENST00000577433.5:n.535G>C
ENST00000577857.5:n.278G>C
ENST00000579286.5:n.508G>C
ENST00000579886.2:c.202-130G>C	ENSP00000463246.1:n.202-130G>C
ENST00000580365.1:n.58G>C
ENST00000581378.5:c.26G>C
ENST00000581562.5:n.374G>C
ENST00000582056.5:n.417G>C
ENST00000582166.1:n.215G>C
ENST00000582356.5:n.526G>C
ENST00000583312.5:c.327G>C	ENSP00000467920.1:p.Val109=
ENST00000584103.5:c.327G>C	ENSP00000465353.1:p.Val109=
NM_000018.3:c.327G>C	NP_000009.1:p.Val109=
NM_001033859.2:c.261G>C	NP_001029031.1:p.Val87=
NM_001270447.1:c.396G>C	NP_001257376.1:p.Val132=
NM_001270448.1:c.99G>C	NP_001257377.1:p.Val33=
XM_006721516.2:c.327G>C	XP_006721579.2:p.Val109=
XM_011523829.1:c.327G>C	XP_011522131.1:p.Val109=
XM_011523830.1:c.327G>C	XP_011522132.1:p.Val109=
XR_934021.1:n.434G>C
XR_934022.1:n.434G>C
XR_934023.1:n.434G>C
XM_006721516.3:c.327G>C	XP_006721579.2:p.Val109=
XM_011523829.2:c.327G>C	XP_011522131.1:p.Val109=
XM_011523830.2:c.327G>C	XP_011522132.1:p.Val109=
XM_024450741.1:c.327G>C	XP_024306509.1:p.Val109=
XR_934021.2:n.386G>C
XR_934022.2:n.386G>C
XR_934023.2:n.386G>C
NM_000018.4:c.327G>C MANE Select	NP_000009.1:p.Val109=
NM_001033859.3:c.261G>C	NP_001029031.1:p.Val87=
NM_001270447.2:c.396G>C	NP_001257376.1:p.Val132=
NM_001270448.2:c.99G>C	NP_001257377.1:p.Val33=