Canonical Allele Identifier: CA397724816

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127163T>C (hg19) ; chr17:g.7223844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223844T>C , CM000679.2:g.7223844T>C	GRCh38
NC_000017.10:g.7127163T>C , CM000679.1:g.7127163T>C	GRCh37
NC_000017.9:g.7067887T>C	NCBI36
NG_007975.1:g.9011T>C
NG_008391.2:g.1207A>G
NG_033038.1:g.15701A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1301T>C MANE Select	ENSP00000349297.5:p.Ile434Thr
ENST00000322910.9:c.*1256T>C	ENSP00000325395.5:n.*1256T>C
ENST00000350303.9:c.1235T>C	ENSP00000344152.5:p.Ile412Thr
ENST00000356839.9:c.1301T>C	ENSP00000349297.5:p.Ile434Thr
ENST00000542255.6:c.159T>C
ENST00000543245.6:c.1370T>C	ENSP00000438689.2:p.Ile457Thr
ENST00000578711.1:n.340T>C
ENST00000578824.5:n.717T>C
ENST00000579425.5:n.325T>C
ENST00000579546.1:c.138T>C
ENST00000583074.5:n.20T>C
ENST00000583850.5:n.76T>C
ENST00000583858.5:c.330T>C
ENST00000585203.6:n.509T>C
NM_000018.3:c.1301T>C	NP_000009.1:p.Ile434Thr
NM_001033859.2:c.1235T>C	NP_001029031.1:p.Ile412Thr
NM_001270447.1:c.1370T>C	NP_001257376.1:p.Ile457Thr
NM_001270448.1:c.1073T>C	NP_001257377.1:p.Ile358Thr
XM_006721516.2:c.1301T>C	XP_006721579.2:p.Ile434Thr
XM_011523829.1:c.1301T>C	XP_011522131.1:p.Ile434Thr
XM_011523830.1:c.1301T>C	XP_011522132.1:p.Ile434Thr
XR_934021.1:n.1408T>C
XR_934022.1:n.1408T>C
XR_934023.1:n.1408T>C
XM_006721516.3:c.1301T>C	XP_006721579.2:p.Ile434Thr
XM_011523829.2:c.1301T>C	XP_011522131.1:p.Ile434Thr
XM_011523830.2:c.1301T>C	XP_011522132.1:p.Ile434Thr
XM_024450741.1:c.1301T>C	XP_024306509.1:p.Ile434Thr
XR_934021.2:n.1360T>C
XR_934022.2:n.1360T>C
XR_934023.2:n.1360T>C
NM_000018.4:c.1301T>C MANE Select	NP_000009.1:p.Ile434Thr
NM_001033859.3:c.1235T>C	NP_001029031.1:p.Ile412Thr
NM_001270447.2:c.1370T>C	NP_001257376.1:p.Ile457Thr
NM_001270448.2:c.1073T>C	NP_001257377.1:p.Ile358Thr