Canonical Allele Identifier: CA10650873

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220505G>C , CM000679.2:g.7220505G>C	GRCh38
NC_000017.10:g.7123824G>C , CM000679.1:g.7123824G>C	GRCh37
NC_000017.9:g.7064548G>C	NCBI36
NG_007975.1:g.5672G>C
NG_008391.2:g.4546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.180G>C MANE Select	ENSP00000349297.5:p.Leu60=
ENST00000322910.9:c.*135G>C	ENSP00000325395.5:n.*135G>C
ENST00000350303.9:c.139-99G>C	ENSP00000344152.5:n.139-99G>C
ENST00000356839.9:c.180G>C	ENSP00000349297.5:p.Leu60=
ENST00000543245.6:c.249G>C	ENSP00000438689.2:p.Leu83=
ENST00000577191.5:n.257G>C
ENST00000577433.5:n.314G>C
ENST00000577857.5:n.229-261G>C
ENST00000578269.5:n.553G>C
ENST00000578421.1:n.314G>C
ENST00000579286.5:n.287G>C
ENST00000579886.2:c.180G>C	ENSP00000463246.1:p.Leu60=
ENST00000580263.5:n.270G>C
ENST00000581562.5:n.227G>C
ENST00000582056.5:n.270G>C
ENST00000582166.1:n.68G>C
ENST00000582356.5:n.305G>C
ENST00000583312.5:c.180G>C	ENSP00000467920.1:p.Leu60=
ENST00000584103.5:c.180G>C	ENSP00000465353.1:p.Leu60=
NM_000018.3:c.180G>C	NP_000009.1:p.Leu60=
NM_001033859.2:c.139-99G>C	NP_001029031.1:n.139-99G>C
NM_001270447.1:c.249G>C	NP_001257376.1:p.Leu83=
NM_001270448.1:c.-49G>C	NP_001257377.1:n.-49G>C
XM_006721516.2:c.180G>C	XP_006721579.2:p.Leu60=
XM_011523829.1:c.180G>C	XP_011522131.1:p.Leu60=
XM_011523830.1:c.180G>C	XP_011522132.1:p.Leu60=
XR_934021.1:n.287G>C
XR_934022.1:n.287G>C
XR_934023.1:n.287G>C
XM_006721516.3:c.180G>C	XP_006721579.2:p.Leu60=
XM_011523829.2:c.180G>C	XP_011522131.1:p.Leu60=
XM_011523830.2:c.180G>C	XP_011522132.1:p.Leu60=
XM_024450741.1:c.180G>C	XP_024306509.1:p.Leu60=
XR_934021.2:n.239G>C
XR_934022.2:n.239G>C
XR_934023.2:n.239G>C
NM_000018.4:c.180G>C MANE Select	NP_000009.1:p.Leu60=
NM_001033859.3:c.139-99G>C	NP_001029031.1:n.139-99G>C
NM_001270447.2:c.249G>C	NP_001257376.1:p.Leu83=
NM_001270448.2:c.-49G>C	NP_001257377.1:n.-49G>C