Canonical Allele Identifier: CA397726000

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071408484
• MyVariant Identifiers: chr17:g.7128282G>C (hg19) ; chr17:g.7224963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224963G>C , CM000679.2:g.7224963G>C	GRCh38
NC_000017.10:g.7128282G>C , CM000679.1:g.7128282G>C	GRCh37
NC_000017.9:g.7069006G>C	NCBI36
NG_007975.1:g.10130G>C
NG_008391.2:g.88C>G
NG_033038.1:g.14582C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1834G>C MANE Select	ENSP00000349297.5:p.Ala612Pro
ENST00000322910.9:c.*1789G>C	ENSP00000325395.5:n.*1789G>C
ENST00000350303.9:c.1768G>C	ENSP00000344152.5:p.Ala590Pro
ENST00000356839.9:c.1834G>C	ENSP00000349297.5:p.Ala612Pro
ENST00000542255.6:c.713G>C
ENST00000543245.6:c.1903G>C	ENSP00000438689.2:p.Ala635Pro
ENST00000578033.1:n.259G>C
ENST00000578319.5:n.415G>C
ENST00000578711.1:n.1459G>C
ENST00000578809.5:n.406G>C
ENST00000579425.5:n.950G>C
ENST00000579546.1:c.569G>C
ENST00000583848.5:c.200G>C	ENSP00000466487.1:n.200G>C
ENST00000583850.5:n.605G>C
ENST00000583858.5:c.765G>C
NM_000018.3:c.1834G>C	NP_000009.1:p.Ala612Pro
NM_001033859.2:c.1768G>C	NP_001029031.1:p.Ala590Pro
NM_001270447.1:c.1903G>C	NP_001257376.1:p.Ala635Pro
NM_001270448.1:c.1606G>C	NP_001257377.1:p.Ala536Pro
XM_006721516.2:c.1855G>C	XP_006721579.2:p.Ala619Pro
XM_011523829.1:c.1753G>C	XP_011522131.1:p.Ala585Pro
XM_011523830.1:c.1732G>C	XP_011522132.1:p.Ala578Pro
XR_934021.1:n.1937G>C
XR_934022.1:n.1843G>C
XR_934023.1:n.1864G>C
XM_006721516.3:c.1855G>C	XP_006721579.2:p.Ala619Pro
XM_011523829.2:c.1753G>C	XP_011522131.1:p.Ala585Pro
XM_011523830.2:c.1732G>C	XP_011522132.1:p.Ala578Pro
XM_024450741.1:c.1822G>C	XP_024306509.1:p.Ala608Pro
XR_934021.2:n.1889G>C
XR_934022.2:n.1795G>C
XR_934023.2:n.1816G>C
NM_000018.4:c.1834G>C MANE Select	NP_000009.1:p.Ala612Pro
NM_001033859.3:c.1768G>C	NP_001029031.1:p.Ala590Pro
NM_001270447.2:c.1903G>C	NP_001257376.1:p.Ala635Pro
NM_001270448.2:c.1606G>C	NP_001257377.1:p.Ala536Pro