Canonical Allele Identifier: CA397725544

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224513-G-C
• MyVariant Identifiers: chr17:g.7127832G>C (hg19) ; chr17:g.7224513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224513G>C , CM000679.2:g.7224513G>C	GRCh38
NC_000017.10:g.7127832G>C , CM000679.1:g.7127832G>C	GRCh37
NC_000017.9:g.7068556G>C	NCBI36
NG_007975.1:g.9680G>C
NG_008391.2:g.538C>G
NG_033038.1:g.15032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1639G>C MANE Select	ENSP00000349297.5:p.Val547Leu
ENST00000322910.9:c.*1594G>C	ENSP00000325395.5:n.*1594G>C
ENST00000350303.9:c.1573G>C	ENSP00000344152.5:p.Val525Leu
ENST00000356839.9:c.1639G>C	ENSP00000349297.5:p.Val547Leu
ENST00000542255.6:c.497G>C
ENST00000543245.6:c.1708G>C	ENSP00000438689.2:p.Val570Leu
ENST00000578319.5:n.220G>C
ENST00000578711.1:n.1009G>C
ENST00000578809.5:n.211G>C
ENST00000579391.1:n.243G>C
ENST00000579425.5:n.755G>C
ENST00000579546.1:c.374G>C
ENST00000579894.5:n.426G>C
ENST00000582450.1:n.147G>C
ENST00000583074.5:n.260G>C
ENST00000583848.5:c.25G>C	ENSP00000466487.1:p.Val9Leu
ENST00000583850.5:n.410G>C
ENST00000583858.5:c.570G>C
ENST00000585203.6:n.830G>C
NM_000018.3:c.1639G>C	NP_000009.1:p.Val547Leu
NM_001033859.2:c.1573G>C	NP_001029031.1:p.Val525Leu
NM_001270447.1:c.1708G>C	NP_001257376.1:p.Val570Leu
NM_001270448.1:c.1411G>C	NP_001257377.1:p.Val471Leu
XM_006721516.2:c.1639G>C	XP_006721579.2:p.Val547Leu
XM_011523829.1:c.1537G>C	XP_011522131.1:p.Val513Leu
XM_011523830.1:c.1537G>C	XP_011522132.1:p.Val513Leu
XR_934021.1:n.1742G>C
XR_934022.1:n.1648G>C
XR_934023.1:n.1648G>C
XM_006721516.3:c.1639G>C	XP_006721579.2:p.Val547Leu
XM_011523829.2:c.1537G>C	XP_011522131.1:p.Val513Leu
XM_011523830.2:c.1537G>C	XP_011522132.1:p.Val513Leu
XM_024450741.1:c.1627G>C	XP_024306509.1:p.Val543Leu
XR_934021.2:n.1694G>C
XR_934022.2:n.1600G>C
XR_934023.2:n.1600G>C
NM_000018.4:c.1639G>C MANE Select	NP_000009.1:p.Val547Leu
NM_001033859.3:c.1573G>C	NP_001029031.1:p.Val525Leu
NM_001270447.2:c.1708G>C	NP_001257376.1:p.Val570Leu
NM_001270448.2:c.1411G>C	NP_001257377.1:p.Val471Leu