Canonical Allele Identifier: CA8337610

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 767481
• ClinVar RCV Id: RCV000946228 ; RCV001200111
• dbSNP Id: rs201085520
• ExAC: 17:7123973 T / C
• gnomAD v2: 17-7123973-T-C
• gnomAD v3: 17-7220654-T-C
• gnomAD v4: 17-7220654-T-C
• MyVariant Identifiers: chr17:g.7123973T>C (hg19) ; chr17:g.7220654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220654T>C , CM000679.2:g.7220654T>C	GRCh38
NC_000017.10:g.7123973T>C , CM000679.1:g.7123973T>C	GRCh37
NC_000017.9:g.7064697T>C	NCBI36
NG_007975.1:g.5821T>C
NG_008391.2:g.4397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.255T>C MANE Select	ENSP00000349297.5:p.Asp85=
ENST00000322910.9:c.*210T>C	ENSP00000325395.5:n.*210T>C
ENST00000350303.9:c.189T>C	ENSP00000344152.5:p.Asp63=
ENST00000356839.9:c.255T>C	ENSP00000349297.5:p.Asp85=
ENST00000543245.6:c.324T>C	ENSP00000438689.2:p.Asp108=
ENST00000577191.5:n.332T>C
ENST00000577433.5:n.463T>C
ENST00000577857.5:n.229-112T>C
ENST00000578269.5:n.702T>C
ENST00000578421.1:n.463T>C
ENST00000579286.5:n.436T>C
ENST00000579886.2:c.201+128T>C	ENSP00000463246.1:n.201+128T>C
ENST00000580263.5:n.419T>C
ENST00000581562.5:n.302T>C
ENST00000582056.5:n.345T>C
ENST00000582166.1:n.143T>C
ENST00000582356.5:n.454T>C
ENST00000583312.5:c.255T>C	ENSP00000467920.1:p.Asp85=
ENST00000584103.5:c.255T>C	ENSP00000465353.1:p.Asp85=
NM_000018.3:c.255T>C	NP_000009.1:p.Asp85=
NM_001033859.2:c.189T>C	NP_001029031.1:p.Asp63=
NM_001270447.1:c.324T>C	NP_001257376.1:p.Asp108=
NM_001270448.1:c.27T>C	NP_001257377.1:p.Asp9=
XM_006721516.2:c.255T>C	XP_006721579.2:p.Asp85=
XM_011523829.1:c.255T>C	XP_011522131.1:p.Asp85=
XM_011523830.1:c.255T>C	XP_011522132.1:p.Asp85=
XR_934021.1:n.362T>C
XR_934022.1:n.362T>C
XR_934023.1:n.362T>C
XM_006721516.3:c.255T>C	XP_006721579.2:p.Asp85=
XM_011523829.2:c.255T>C	XP_011522131.1:p.Asp85=
XM_011523830.2:c.255T>C	XP_011522132.1:p.Asp85=
XM_024450741.1:c.255T>C	XP_024306509.1:p.Asp85=
XR_934021.2:n.314T>C
XR_934022.2:n.314T>C
XR_934023.2:n.314T>C
NM_000018.4:c.255T>C MANE Select	NP_000009.1:p.Asp85=
NM_001033859.3:c.189T>C	NP_001029031.1:p.Asp63=
NM_001270447.2:c.324T>C	NP_001257376.1:p.Asp108=
NM_001270448.2:c.27T>C	NP_001257377.1:p.Asp9=