Canonical Allele Identifier: CA245879

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 197617
• ClinVar RCV Id: RCV000178701 ; RCV001852220
• dbSNP Id: rs794727695
• gnomAD v2: 17-7124101-G-C
• gnomAD v4: 17-7220782-G-C
• COSMIC: COSM3820439
• MyVariant Identifiers: chr17:g.7124101G>C (hg19) ; chr17:g.7220782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220782G>C , CM000679.2:g.7220782G>C	GRCh38
NC_000017.10:g.7124101G>C , CM000679.1:g.7124101G>C	GRCh37
NC_000017.9:g.7064825G>C	NCBI36
NG_007975.1:g.5949G>C
NG_008391.2:g.4269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.294G>C MANE Select	ENSP00000349297.5:p.Gln98His
ENST00000322910.9:c.*249G>C	ENSP00000325395.5:n.*249G>C
ENST00000350303.9:c.228G>C	ENSP00000344152.5:p.Gln76His
ENST00000356839.9:c.294G>C	ENSP00000349297.5:p.Gln98His
ENST00000543245.6:c.363G>C	ENSP00000438689.2:p.Gln121His
ENST00000577191.5:n.371G>C
ENST00000577433.5:n.502G>C
ENST00000577857.5:n.245G>C
ENST00000579286.5:n.475G>C
ENST00000579886.2:c.202-163G>C	ENSP00000463246.1:n.202-163G>C
ENST00000580365.1:n.25G>C
ENST00000581562.5:n.341G>C
ENST00000582056.5:n.384G>C
ENST00000582166.1:n.182G>C
ENST00000582356.5:n.493G>C
ENST00000583312.5:c.294G>C	ENSP00000467920.1:p.Gln98His
ENST00000584103.5:c.294G>C	ENSP00000465353.1:p.Gln98His
NM_000018.3:c.294G>C	NP_000009.1:p.Gln98His
NM_001033859.2:c.228G>C	NP_001029031.1:p.Gln76His
NM_001270447.1:c.363G>C	NP_001257376.1:p.Gln121His
NM_001270448.1:c.66G>C	NP_001257377.1:p.Gln22His
XM_006721516.2:c.294G>C	XP_006721579.2:p.Gln98His
XM_011523829.1:c.294G>C	XP_011522131.1:p.Gln98His
XM_011523830.1:c.294G>C	XP_011522132.1:p.Gln98His
XR_934021.1:n.401G>C
XR_934022.1:n.401G>C
XR_934023.1:n.401G>C
XM_006721516.3:c.294G>C	XP_006721579.2:p.Gln98His
XM_011523829.2:c.294G>C	XP_011522131.1:p.Gln98His
XM_011523830.2:c.294G>C	XP_011522132.1:p.Gln98His
XM_024450741.1:c.294G>C	XP_024306509.1:p.Gln98His
XR_934021.2:n.353G>C
XR_934022.2:n.353G>C
XR_934023.2:n.353G>C
NM_000018.4:c.294G>C MANE Select	NP_000009.1:p.Gln98His
NM_001033859.3:c.228G>C	NP_001029031.1:p.Gln76His
NM_001270447.2:c.363G>C	NP_001257376.1:p.Gln121His
NM_001270448.2:c.66G>C	NP_001257377.1:p.Gln22His