Canonical Allele Identifier: CA397724728

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127047T>C (hg19) ; chr17:g.7223728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223728T>C , CM000679.2:g.7223728T>C	GRCh38
NC_000017.10:g.7127047T>C , CM000679.1:g.7127047T>C	GRCh37
NC_000017.9:g.7067771T>C	NCBI36
NG_007975.1:g.8895T>C
NG_008391.2:g.1323A>G
NG_033038.1:g.15817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1267T>C MANE Select	ENSP00000349297.5:p.Ser423Pro
ENST00000322910.9:c.*1222T>C	ENSP00000325395.5:n.*1222T>C
ENST00000350303.9:c.1201T>C	ENSP00000344152.5:p.Ser401Pro
ENST00000356839.9:c.1267T>C	ENSP00000349297.5:p.Ser423Pro
ENST00000542255.6:c.125T>C
ENST00000543245.6:c.1336T>C	ENSP00000438689.2:p.Ser446Pro
ENST00000578579.2:n.438T>C
ENST00000578711.1:n.224T>C
ENST00000578824.5:n.683T>C
ENST00000579425.5:n.291T>C
ENST00000579546.1:c.104T>C
ENST00000583850.5:n.42T>C
ENST00000583858.5:c.296T>C
ENST00000585203.6:n.475T>C
NM_000018.3:c.1267T>C	NP_000009.1:p.Ser423Pro
NM_001033859.2:c.1201T>C	NP_001029031.1:p.Ser401Pro
NM_001270447.1:c.1336T>C	NP_001257376.1:p.Ser446Pro
NM_001270448.1:c.1039T>C	NP_001257377.1:p.Ser347Pro
XM_006721516.2:c.1267T>C	XP_006721579.2:p.Ser423Pro
XM_011523829.1:c.1267T>C	XP_011522131.1:p.Ser423Pro
XM_011523830.1:c.1267T>C	XP_011522132.1:p.Ser423Pro
XR_934021.1:n.1374T>C
XR_934022.1:n.1374T>C
XR_934023.1:n.1374T>C
XM_006721516.3:c.1267T>C	XP_006721579.2:p.Ser423Pro
XM_011523829.2:c.1267T>C	XP_011522131.1:p.Ser423Pro
XM_011523830.2:c.1267T>C	XP_011522132.1:p.Ser423Pro
XM_024450741.1:c.1267T>C	XP_024306509.1:p.Ser423Pro
XR_934021.2:n.1326T>C
XR_934022.2:n.1326T>C
XR_934023.2:n.1326T>C
NM_000018.4:c.1267T>C MANE Select	NP_000009.1:p.Ser423Pro
NM_001033859.3:c.1201T>C	NP_001029031.1:p.Ser401Pro
NM_001270447.2:c.1336T>C	NP_001257376.1:p.Ser446Pro
NM_001270448.2:c.1039T>C	NP_001257377.1:p.Ser347Pro