Canonical Allele Identifier: CA624693639

Gene: ACADVL

Linked Data

• dbSNP Id: rs1343539484
• gnomAD v2: 17-7124800-T-C
• gnomAD v4: 17-7221481-T-C
• MyVariant Identifiers: chr17:g.7124800T>C (hg19) ; chr17:g.7221481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221481T>C , CM000679.2:g.7221481T>C	GRCh38
NC_000017.10:g.7124800T>C , CM000679.1:g.7124800T>C	GRCh37
NC_000017.9:g.7065524T>C	NCBI36
NG_007975.1:g.6648T>C
NG_008391.2:g.3570A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-57T>C MANE Select	ENSP00000349297.5:n.478-57T>C
ENST00000322910.9:c.*433-57T>C	ENSP00000325395.5:n.*433-57T>C
ENST00000350303.9:c.412-57T>C	ENSP00000344152.5:n.412-57T>C
ENST00000356839.9:c.478-57T>C	ENSP00000349297.5:n.478-57T>C
ENST00000543245.6:c.547-57T>C	ENSP00000438689.2:n.547-57T>C
ENST00000577191.5:n.555-57T>C
ENST00000577433.5:n.686-57T>C
ENST00000577857.5:n.294-57T>C
ENST00000579286.5:n.659-57T>C
ENST00000579886.2:c.316-57T>C	ENSP00000463246.1:n.316-57T>C
ENST00000580365.1:n.209-57T>C
ENST00000581378.5:c.177-38T>C
ENST00000581562.5:n.524+423T>C
ENST00000582166.1:n.459-57T>C
ENST00000583312.5:c.478-57T>C	ENSP00000467920.1:n.478-57T>C
ENST00000583760.1:n.203T>C
NM_000018.3:c.478-57T>C	NP_000009.1:n.478-57T>C
NM_001033859.2:c.412-57T>C	NP_001029031.1:n.412-57T>C
NM_001270447.1:c.547-57T>C	NP_001257376.1:n.547-57T>C
NM_001270448.1:c.250-57T>C	NP_001257377.1:n.250-57T>C
XM_006721516.2:c.478-57T>C	XP_006721579.2:n.478-57T>C
XM_011523829.1:c.478-57T>C	XP_011522131.1:n.478-57T>C
XM_011523830.1:c.478-57T>C	XP_011522132.1:n.478-57T>C
XR_934021.1:n.585-57T>C
XR_934022.1:n.585-57T>C
XR_934023.1:n.585-57T>C
XM_006721516.3:c.478-57T>C	XP_006721579.2:n.478-57T>C
XM_011523829.2:c.478-57T>C	XP_011522131.1:n.478-57T>C
XM_011523830.2:c.478-57T>C	XP_011522132.1:n.478-57T>C
XM_024450741.1:c.478-57T>C	XP_024306509.1:n.478-57T>C
XR_934021.2:n.537-57T>C
XR_934022.2:n.537-57T>C
XR_934023.2:n.537-57T>C
NM_000018.4:c.478-57T>C MANE Select	NP_000009.1:n.478-57T>C
NM_001033859.3:c.412-57T>C	NP_001029031.1:n.412-57T>C
NM_001270447.2:c.547-57T>C	NP_001257376.1:n.547-57T>C
NM_001270448.2:c.250-57T>C	NP_001257377.1:n.250-57T>C