Canonical Allele Identifier: CA397726089

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128328A>C (hg19) ; chr17:g.7225009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225009A>C , CM000679.2:g.7225009A>C	GRCh38
NC_000017.10:g.7128328A>C , CM000679.1:g.7128328A>C	GRCh37
NC_000017.9:g.7069052A>C	NCBI36
NG_007975.1:g.10176A>C
NG_008391.2:g.42T>G
NG_033038.1:g.14536T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1880A>C MANE Select	ENSP00000349297.5:p.Gln627Pro
ENST00000322910.9:c.*1835A>C	ENSP00000325395.5:n.*1835A>C
ENST00000350303.9:c.1814A>C	ENSP00000344152.5:p.Gln605Pro
ENST00000356839.9:c.1880A>C	ENSP00000349297.5:p.Gln627Pro
ENST00000542255.6:c.759A>C
ENST00000543245.6:c.1949A>C	ENSP00000438689.2:p.Gln650Pro
ENST00000578033.1:n.305A>C
ENST00000578319.5:n.461A>C
ENST00000578711.1:n.1505A>C
ENST00000578809.5:n.452A>C
ENST00000579425.5:n.996A>C
ENST00000583848.5:c.246A>C	ENSP00000466487.1:n.246A>C
ENST00000583850.5:n.651A>C
ENST00000583858.5:c.811A>C
NM_000018.3:c.1880A>C	NP_000009.1:p.Gln627Pro
NM_001033859.2:c.1814A>C	NP_001029031.1:p.Gln605Pro
NM_001270447.1:c.1949A>C	NP_001257376.1:p.Gln650Pro
NM_001270448.1:c.1652A>C	NP_001257377.1:p.Gln551Pro
XM_006721516.2:c.1901A>C	XP_006721579.2:p.Gln634Pro
XM_011523829.1:c.1799A>C	XP_011522131.1:p.Gln600Pro
XM_011523830.1:c.1778A>C	XP_011522132.1:p.Gln593Pro
XR_934021.1:n.1983A>C
XR_934022.1:n.1889A>C
XR_934023.1:n.1910A>C
XM_006721516.3:c.1901A>C	XP_006721579.2:p.Gln634Pro
XM_011523829.2:c.1799A>C	XP_011522131.1:p.Gln600Pro
XM_011523830.2:c.1778A>C	XP_011522132.1:p.Gln593Pro
XM_024450741.1:c.1868A>C	XP_024306509.1:p.Gln623Pro
XR_934021.2:n.1935A>C
XR_934022.2:n.1841A>C
XR_934023.2:n.1862A>C
NM_000018.4:c.1880A>C MANE Select	NP_000009.1:p.Gln627Pro
NM_001033859.3:c.1814A>C	NP_001029031.1:p.Gln605Pro
NM_001270447.2:c.1949A>C	NP_001257376.1:p.Gln650Pro
NM_001270448.2:c.1652A>C	NP_001257377.1:p.Gln551Pro