Canonical Allele Identifier: CA8337708

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1604795
• ClinVar RCV Id: RCV002149639
• dbSNP Id: rs202059117
• ExAC: 17:7124393 C / T
• gnomAD v2: 17-7124393-C-T
• gnomAD v3: 17-7221074-C-T
• gnomAD v4: 17-7221074-C-T
• MyVariant Identifiers: chr17:g.7124393C>T (hg19) ; chr17:g.7221074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221074C>T , CM000679.2:g.7221074C>T	GRCh38
NC_000017.10:g.7124393C>T , CM000679.1:g.7124393C>T	GRCh37
NC_000017.9:g.7065117C>T	NCBI36
NG_007975.1:g.6241C>T
NG_008391.2:g.3977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+16C>T MANE Select	ENSP00000349297.5:n.477+16C>T
ENST00000322910.9:c.*432+16C>T	ENSP00000325395.5:n.*432+16C>T
ENST00000350303.9:c.411+16C>T	ENSP00000344152.5:n.411+16C>T
ENST00000356839.9:c.477+16C>T	ENSP00000349297.5:n.477+16C>T
ENST00000543245.6:c.546+16C>T	ENSP00000438689.2:n.546+16C>T
ENST00000577191.5:n.554+16C>T
ENST00000577433.5:n.685+16C>T
ENST00000577857.5:n.293+244C>T
ENST00000579286.5:n.658+16C>T
ENST00000579886.2:c.315+16C>T	ENSP00000463246.1:n.315+16C>T
ENST00000580365.1:n.208+16C>T
ENST00000581378.5:c.176+16C>T
ENST00000581562.5:n.524+16C>T
ENST00000582056.5:n.676C>T
ENST00000582166.1:n.458+16C>T
ENST00000583312.5:c.477+16C>T	ENSP00000467920.1:n.477+16C>T
NM_000018.3:c.477+16C>T	NP_000009.1:n.477+16C>T
NM_001033859.2:c.411+16C>T	NP_001029031.1:n.411+16C>T
NM_001270447.1:c.546+16C>T	NP_001257376.1:n.546+16C>T
NM_001270448.1:c.249+16C>T	NP_001257377.1:n.249+16C>T
XM_006721516.2:c.477+16C>T	XP_006721579.2:n.477+16C>T
XM_011523829.1:c.477+16C>T	XP_011522131.1:n.477+16C>T
XM_011523830.1:c.477+16C>T	XP_011522132.1:n.477+16C>T
XR_934021.1:n.584+16C>T
XR_934022.1:n.584+16C>T
XR_934023.1:n.584+16C>T
XM_006721516.3:c.477+16C>T	XP_006721579.2:n.477+16C>T
XM_011523829.2:c.477+16C>T	XP_011522131.1:n.477+16C>T
XM_011523830.2:c.477+16C>T	XP_011522132.1:n.477+16C>T
XM_024450741.1:c.477+16C>T	XP_024306509.1:n.477+16C>T
XR_934021.2:n.536+16C>T
XR_934022.2:n.536+16C>T
XR_934023.2:n.536+16C>T
NM_000018.4:c.477+16C>T MANE Select	NP_000009.1:n.477+16C>T
NM_001033859.3:c.411+16C>T	NP_001029031.1:n.411+16C>T
NM_001270447.2:c.546+16C>T	NP_001257376.1:n.546+16C>T
NM_001270448.2:c.249+16C>T	NP_001257377.1:n.249+16C>T