Canonical Allele Identifier: CA16607869

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 389733
• ClinVar RCV Id: RCV000426805 ; RCV002063487
• dbSNP Id: rs1057523521
• gnomAD v2: 17-7124389-C-G
• gnomAD v3: 17-7221070-C-G
• gnomAD v4: 17-7221070-C-G
• MyVariant Identifiers: chr17:g.7124389C>G (hg19) ; chr17:g.7221070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221070C>G , CM000679.2:g.7221070C>G	GRCh38
NC_000017.10:g.7124389C>G , CM000679.1:g.7124389C>G	GRCh37
NC_000017.9:g.7065113C>G	NCBI36
NG_007975.1:g.6237C>G
NG_008391.2:g.3981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+12C>G MANE Select	ENSP00000349297.5:n.477+12C>G
ENST00000322910.9:c.*432+12C>G	ENSP00000325395.5:n.*432+12C>G
ENST00000350303.9:c.411+12C>G	ENSP00000344152.5:n.411+12C>G
ENST00000356839.9:c.477+12C>G	ENSP00000349297.5:n.477+12C>G
ENST00000543245.6:c.546+12C>G	ENSP00000438689.2:n.546+12C>G
ENST00000577191.5:n.554+12C>G
ENST00000577433.5:n.685+12C>G
ENST00000577857.5:n.293+240C>G
ENST00000579286.5:n.658+12C>G
ENST00000579886.2:c.315+12C>G	ENSP00000463246.1:n.315+12C>G
ENST00000580365.1:n.208+12C>G
ENST00000581378.5:c.176+12C>G
ENST00000581562.5:n.524+12C>G
ENST00000582056.5:n.672C>G
ENST00000582166.1:n.458+12C>G
ENST00000583312.5:c.477+12C>G	ENSP00000467920.1:n.477+12C>G
NM_000018.3:c.477+12C>G	NP_000009.1:n.477+12C>G
NM_001033859.2:c.411+12C>G	NP_001029031.1:n.411+12C>G
NM_001270447.1:c.546+12C>G	NP_001257376.1:n.546+12C>G
NM_001270448.1:c.249+12C>G	NP_001257377.1:n.249+12C>G
XM_006721516.2:c.477+12C>G	XP_006721579.2:n.477+12C>G
XM_011523829.1:c.477+12C>G	XP_011522131.1:n.477+12C>G
XM_011523830.1:c.477+12C>G	XP_011522132.1:n.477+12C>G
XR_934021.1:n.584+12C>G
XR_934022.1:n.584+12C>G
XR_934023.1:n.584+12C>G
XM_006721516.3:c.477+12C>G	XP_006721579.2:n.477+12C>G
XM_011523829.2:c.477+12C>G	XP_011522131.1:n.477+12C>G
XM_011523830.2:c.477+12C>G	XP_011522132.1:n.477+12C>G
XM_024450741.1:c.477+12C>G	XP_024306509.1:n.477+12C>G
XR_934021.2:n.536+12C>G
XR_934022.2:n.536+12C>G
XR_934023.2:n.536+12C>G
NM_000018.4:c.477+12C>G MANE Select	NP_000009.1:n.477+12C>G
NM_001033859.3:c.411+12C>G	NP_001029031.1:n.411+12C>G
NM_001270447.2:c.546+12C>G	NP_001257376.1:n.546+12C>G
NM_001270448.2:c.249+12C>G	NP_001257377.1:n.249+12C>G