Canonical Allele Identifier: CA645372604

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 432072
• ClinVar RCV Id: RCV000498130 ; RCV000664668
• dbSNP Id: rs1555527495
• MyVariant Identifiers: chr17:g.7123371T>C (hg19) ; chr17:g.7220052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220052T>C , CM000679.2:g.7220052T>C	GRCh38
NC_000017.10:g.7123371T>C , CM000679.1:g.7123371T>C	GRCh37
NC_000017.9:g.7064095T>C	NCBI36
NG_007975.1:g.5219T>C
NG_008391.2:g.4999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.62+6T>C MANE Select	ENSP00000349297.5:n.62+6T>C
ENST00000322910.9:c.68T>C	ENSP00000325395.5:p.Val23Ala
ENST00000350303.9:c.62+6T>C	ENSP00000344152.5:n.62+6T>C
ENST00000356839.9:c.62+6T>C	ENSP00000349297.5:n.62+6T>C
ENST00000543245.6:c.132-70T>C	ENSP00000438689.2:n.132-70T>C
ENST00000577191.5:n.139+6T>C
ENST00000577857.5:n.152+6T>C
ENST00000578269.5:n.169+6T>C
ENST00000578421.1:n.127T>C
ENST00000579286.5:n.169+6T>C
ENST00000579886.2:c.62+6T>C	ENSP00000463246.1:n.62+6T>C
ENST00000580263.5:n.152+6T>C
ENST00000581562.5:n.109+6T>C
ENST00000582056.5:n.152+6T>C
ENST00000582356.5:n.187+6T>C
ENST00000583312.5:c.62+6T>C	ENSP00000467920.1:n.62+6T>C
ENST00000584103.5:c.62+6T>C	ENSP00000465353.1:n.62+6T>C
NM_000018.3:c.62+6T>C	NP_000009.1:n.62+6T>C
NM_001033859.2:c.62+6T>C	NP_001029031.1:n.62+6T>C
NM_001270447.1:c.132-70T>C	NP_001257376.1:n.132-70T>C
NM_001270448.1:c.-236T>C	NP_001257377.1:n.-236T>C
XM_006721516.2:c.62+6T>C	XP_006721579.2:n.62+6T>C
XM_011523829.1:c.62+6T>C	XP_011522131.1:n.62+6T>C
XM_011523830.1:c.62+6T>C	XP_011522132.1:n.62+6T>C
XR_934021.1:n.169+6T>C
XR_934022.1:n.169+6T>C
XR_934023.1:n.169+6T>C
XM_006721516.3:c.62+6T>C	XP_006721579.2:n.62+6T>C
XM_011523829.2:c.62+6T>C	XP_011522131.1:n.62+6T>C
XM_011523830.2:c.62+6T>C	XP_011522132.1:n.62+6T>C
XM_024450741.1:c.62+6T>C	XP_024306509.1:n.62+6T>C
XR_934021.2:n.121+6T>C
XR_934022.2:n.121+6T>C
XR_934023.2:n.121+6T>C
NM_000018.4:c.62+6T>C MANE Select	NP_000009.1:n.62+6T>C
NM_001033859.3:c.62+6T>C	NP_001029031.1:n.62+6T>C
NM_001270447.2:c.132-70T>C	NP_001257376.1:n.132-70T>C
NM_001270448.2:c.-236T>C	NP_001257377.1:n.-236T>C