Canonical Allele Identifier: CA397722984

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1348102
• ClinVar RCV Id: RCV002033275
• dbSNP Id: rs2142969951
• gnomAD v4: 17-7221059-G-C
• MyVariant Identifiers: chr17:g.7124378G>C (hg19) ; chr17:g.7221059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221059G>C , CM000679.2:g.7221059G>C	GRCh38
NC_000017.10:g.7124378G>C , CM000679.1:g.7124378G>C	GRCh37
NC_000017.9:g.7065102G>C	NCBI36
NG_007975.1:g.6226G>C
NG_008391.2:g.3992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+1G>C MANE Select	ENSP00000349297.5:n.477+1G>C
ENST00000322910.9:c.*432+1G>C	ENSP00000325395.5:n.*432+1G>C
ENST00000350303.9:c.411+1G>C	ENSP00000344152.5:n.411+1G>C
ENST00000356839.9:c.477+1G>C	ENSP00000349297.5:n.477+1G>C
ENST00000543245.6:c.546+1G>C	ENSP00000438689.2:n.546+1G>C
ENST00000577191.5:n.554+1G>C
ENST00000577433.5:n.685+1G>C
ENST00000577857.5:n.293+229G>C
ENST00000579286.5:n.658+1G>C
ENST00000579886.2:c.315+1G>C	ENSP00000463246.1:n.315+1G>C
ENST00000580365.1:n.208+1G>C
ENST00000581378.5:c.176+1G>C
ENST00000581562.5:n.524+1G>C
ENST00000582056.5:n.661G>C
ENST00000582166.1:n.458+1G>C
ENST00000583312.5:c.477+1G>C	ENSP00000467920.1:n.477+1G>C
NM_000018.3:c.477+1G>C	NP_000009.1:n.477+1G>C
NM_001033859.2:c.411+1G>C	NP_001029031.1:n.411+1G>C
NM_001270447.1:c.546+1G>C	NP_001257376.1:n.546+1G>C
NM_001270448.1:c.249+1G>C	NP_001257377.1:n.249+1G>C
XM_006721516.2:c.477+1G>C	XP_006721579.2:n.477+1G>C
XM_011523829.1:c.477+1G>C	XP_011522131.1:n.477+1G>C
XM_011523830.1:c.477+1G>C	XP_011522132.1:n.477+1G>C
XR_934021.1:n.584+1G>C
XR_934022.1:n.584+1G>C
XR_934023.1:n.584+1G>C
XM_006721516.3:c.477+1G>C	XP_006721579.2:n.477+1G>C
XM_011523829.2:c.477+1G>C	XP_011522131.1:n.477+1G>C
XM_011523830.2:c.477+1G>C	XP_011522132.1:n.477+1G>C
XM_024450741.1:c.477+1G>C	XP_024306509.1:n.477+1G>C
XR_934021.2:n.536+1G>C
XR_934022.2:n.536+1G>C
XR_934023.2:n.536+1G>C
NM_000018.4:c.477+1G>C MANE Select	NP_000009.1:n.477+1G>C
NM_001033859.3:c.411+1G>C	NP_001029031.1:n.411+1G>C
NM_001270447.2:c.546+1G>C	NP_001257376.1:n.546+1G>C
NM_001270448.2:c.249+1G>C	NP_001257377.1:n.249+1G>C