Canonical Allele Identifier: CA220204

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92282
• ClinVar RCV Id: RCV000077914 ; RCV001200852
• dbSNP Id: rs398123087
• ExAC: 17:7123989 C / T
• gnomAD v2: 17-7123989-C-T
• gnomAD v4: 17-7220670-C-T
• MyVariant Identifiers: chr17:g.7123989C>T (hg19) ; chr17:g.7220670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220670C>T , CM000679.2:g.7220670C>T	GRCh38
NC_000017.10:g.7123989C>T , CM000679.1:g.7123989C>T	GRCh37
NC_000017.9:g.7064713C>T	NCBI36
NG_007975.1:g.5837C>T
NG_008391.2:g.4381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.271C>T MANE Select	ENSP00000349297.5:p.Pro91Ser
ENST00000322910.9:c.*226C>T	ENSP00000325395.5:n.*226C>T
ENST00000350303.9:c.205C>T	ENSP00000344152.5:p.Pro69Ser
ENST00000356839.9:c.271C>T	ENSP00000349297.5:p.Pro91Ser
ENST00000543245.6:c.340C>T	ENSP00000438689.2:p.Pro114Ser
ENST00000577191.5:n.348C>T
ENST00000577433.5:n.479C>T
ENST00000577857.5:n.229-96C>T
ENST00000578269.5:n.718C>T
ENST00000578421.1:n.479C>T
ENST00000579286.5:n.452C>T
ENST00000579886.2:c.201+144C>T	ENSP00000463246.1:n.201+144C>T
ENST00000580263.5:n.435C>T
ENST00000581562.5:n.318C>T
ENST00000582056.5:n.361C>T
ENST00000582166.1:n.159C>T
ENST00000582356.5:n.470C>T
ENST00000583312.5:c.271C>T	ENSP00000467920.1:p.Pro91Ser
ENST00000584103.5:c.271C>T	ENSP00000465353.1:p.Pro91Ser
NM_000018.3:c.271C>T	NP_000009.1:p.Pro91Ser
NM_001033859.2:c.205C>T	NP_001029031.1:p.Pro69Ser
NM_001270447.1:c.340C>T	NP_001257376.1:p.Pro114Ser
NM_001270448.1:c.43C>T	NP_001257377.1:p.Pro15Ser
XM_006721516.2:c.271C>T	XP_006721579.2:p.Pro91Ser
XM_011523829.1:c.271C>T	XP_011522131.1:p.Pro91Ser
XM_011523830.1:c.271C>T	XP_011522132.1:p.Pro91Ser
XR_934021.1:n.378C>T
XR_934022.1:n.378C>T
XR_934023.1:n.378C>T
XM_006721516.3:c.271C>T	XP_006721579.2:p.Pro91Ser
XM_011523829.2:c.271C>T	XP_011522131.1:p.Pro91Ser
XM_011523830.2:c.271C>T	XP_011522132.1:p.Pro91Ser
XM_024450741.1:c.271C>T	XP_024306509.1:p.Pro91Ser
XR_934021.2:n.330C>T
XR_934022.2:n.330C>T
XR_934023.2:n.330C>T
NM_000018.4:c.271C>T MANE Select	NP_000009.1:p.Pro91Ser
NM_001033859.3:c.205C>T	NP_001029031.1:p.Pro69Ser
NM_001270447.2:c.340C>T	NP_001257376.1:p.Pro114Ser
NM_001270448.2:c.43C>T	NP_001257377.1:p.Pro15Ser