Canonical Allele Identifier: CA397724136

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2802858
• ClinVar RCV Id: RCV003601398
• MyVariant Identifiers: chr17:g.7126108T>C (hg19) ; chr17:g.7222789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222789T>C , CM000679.2:g.7222789T>C	GRCh38
NC_000017.10:g.7126108T>C , CM000679.1:g.7126108T>C	GRCh37
NC_000017.9:g.7066832T>C	NCBI36
NG_007975.1:g.7956T>C
NG_008391.2:g.2262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1001T>C MANE Select	ENSP00000349297.5:p.Met334Thr
ENST00000322910.9:c.*956T>C	ENSP00000325395.5:n.*956T>C
ENST00000350303.9:c.935T>C	ENSP00000344152.5:p.Met312Thr
ENST00000356839.9:c.1001T>C	ENSP00000349297.5:p.Met334Thr
ENST00000543245.6:c.1070T>C	ENSP00000438689.2:p.Met357Thr
ENST00000578824.5:n.150T>C
ENST00000581378.5:c.719T>C
ENST00000582379.1:n.385T>C
ENST00000583858.5:c.30T>C
NM_000018.3:c.1001T>C	NP_000009.1:p.Met334Thr
NM_001033859.2:c.935T>C	NP_001029031.1:p.Met312Thr
NM_001270447.1:c.1070T>C	NP_001257376.1:p.Met357Thr
NM_001270448.1:c.773T>C	NP_001257377.1:p.Met258Thr
XM_006721516.2:c.1001T>C	XP_006721579.2:p.Met334Thr
XM_011523829.1:c.1001T>C	XP_011522131.1:p.Met334Thr
XM_011523830.1:c.1001T>C	XP_011522132.1:p.Met334Thr
XR_934021.1:n.1108T>C
XR_934022.1:n.1108T>C
XR_934023.1:n.1108T>C
XM_006721516.3:c.1001T>C	XP_006721579.2:p.Met334Thr
XM_011523829.2:c.1001T>C	XP_011522131.1:p.Met334Thr
XM_011523830.2:c.1001T>C	XP_011522132.1:p.Met334Thr
XM_024450741.1:c.1001T>C	XP_024306509.1:p.Met334Thr
XR_934021.2:n.1060T>C
XR_934022.2:n.1060T>C
XR_934023.2:n.1060T>C
NM_000018.4:c.1001T>C MANE Select	NP_000009.1:p.Met334Thr
NM_001033859.3:c.935T>C	NP_001029031.1:p.Met312Thr
NM_001270447.2:c.1070T>C	NP_001257376.1:p.Met357Thr
NM_001270448.2:c.773T>C	NP_001257377.1:p.Met258Thr