Canonical Allele Identifier: CA397722912

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2159171
• ClinVar RCV Id: RCV003072676
• dbSNP Id: rs1470817106
• gnomAD v2: 17-7124343-G-C
• gnomAD v4: 17-7221024-G-C
• MyVariant Identifiers: chr17:g.7124343G>C (hg19) ; chr17:g.7221024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221024G>C , CM000679.2:g.7221024G>C	GRCh38
NC_000017.10:g.7124343G>C , CM000679.1:g.7124343G>C	GRCh37
NC_000017.9:g.7065067G>C	NCBI36
NG_007975.1:g.6191G>C
NG_008391.2:g.4027C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.443G>C MANE Select	ENSP00000349297.5:p.Ser148Thr
ENST00000322910.9:c.*398G>C	ENSP00000325395.5:n.*398G>C
ENST00000350303.9:c.377G>C	ENSP00000344152.5:p.Ser126Thr
ENST00000356839.9:c.443G>C	ENSP00000349297.5:p.Ser148Thr
ENST00000543245.6:c.512G>C	ENSP00000438689.2:p.Ser171Thr
ENST00000577191.5:n.520G>C
ENST00000577433.5:n.651G>C
ENST00000577857.5:n.293+194G>C
ENST00000579286.5:n.624G>C
ENST00000579886.2:c.281G>C	ENSP00000463246.1:p.Ser94Thr
ENST00000580365.1:n.174G>C
ENST00000581378.5:c.142G>C
ENST00000581562.5:n.490G>C
ENST00000582056.5:n.626G>C
ENST00000582166.1:n.424G>C
ENST00000583312.5:c.443G>C	ENSP00000467920.1:p.Ser148Thr
NM_000018.3:c.443G>C	NP_000009.1:p.Ser148Thr
NM_001033859.2:c.377G>C	NP_001029031.1:p.Ser126Thr
NM_001270447.1:c.512G>C	NP_001257376.1:p.Ser171Thr
NM_001270448.1:c.215G>C	NP_001257377.1:p.Ser72Thr
XM_006721516.2:c.443G>C	XP_006721579.2:p.Ser148Thr
XM_011523829.1:c.443G>C	XP_011522131.1:p.Ser148Thr
XM_011523830.1:c.443G>C	XP_011522132.1:p.Ser148Thr
XR_934021.1:n.550G>C
XR_934022.1:n.550G>C
XR_934023.1:n.550G>C
XM_006721516.3:c.443G>C	XP_006721579.2:p.Ser148Thr
XM_011523829.2:c.443G>C	XP_011522131.1:p.Ser148Thr
XM_011523830.2:c.443G>C	XP_011522132.1:p.Ser148Thr
XM_024450741.1:c.443G>C	XP_024306509.1:p.Ser148Thr
XR_934021.2:n.502G>C
XR_934022.2:n.502G>C
XR_934023.2:n.502G>C
NM_000018.4:c.443G>C MANE Select	NP_000009.1:p.Ser148Thr
NM_001033859.3:c.377G>C	NP_001029031.1:p.Ser126Thr
NM_001270447.2:c.512G>C	NP_001257376.1:p.Ser171Thr
NM_001270448.2:c.215G>C	NP_001257377.1:p.Ser72Thr