Canonical Allele Identifier: CA8337723

Gene: ACADVL

Linked Data

• dbSNP Id: rs758212548
• ExAC: 17:7124805 G / A
• gnomAD v4: 17-7221486-G-A
• MyVariant Identifiers: chr17:g.7124805G>A (hg19) ; chr17:g.7221486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221486G>A , CM000679.2:g.7221486G>A	GRCh38
NC_000017.10:g.7124805G>A , CM000679.1:g.7124805G>A	GRCh37
NC_000017.9:g.7065529G>A	NCBI36
NG_007975.1:g.6653G>A
NG_008391.2:g.3565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-52G>A MANE Select	ENSP00000349297.5:n.478-52G>A
ENST00000322910.9:c.*433-52G>A	ENSP00000325395.5:n.*433-52G>A
ENST00000350303.9:c.412-52G>A	ENSP00000344152.5:n.412-52G>A
ENST00000356839.9:c.478-52G>A	ENSP00000349297.5:n.478-52G>A
ENST00000543245.6:c.547-52G>A	ENSP00000438689.2:n.547-52G>A
ENST00000577191.5:n.555-52G>A
ENST00000577433.5:n.686-52G>A
ENST00000577857.5:n.294-52G>A
ENST00000579286.5:n.659-52G>A
ENST00000579886.2:c.316-52G>A	ENSP00000463246.1:n.316-52G>A
ENST00000580365.1:n.209-52G>A
ENST00000581378.5:c.177-33G>A
ENST00000581562.5:n.524+428G>A
ENST00000582166.1:n.459-52G>A
ENST00000583312.5:c.478-52G>A	ENSP00000467920.1:n.478-52G>A
ENST00000583760.1:n.208G>A
NM_000018.3:c.478-52G>A	NP_000009.1:n.478-52G>A
NM_001033859.2:c.412-52G>A	NP_001029031.1:n.412-52G>A
NM_001270447.1:c.547-52G>A	NP_001257376.1:n.547-52G>A
NM_001270448.1:c.250-52G>A	NP_001257377.1:n.250-52G>A
XM_006721516.2:c.478-52G>A	XP_006721579.2:n.478-52G>A
XM_011523829.1:c.478-52G>A	XP_011522131.1:n.478-52G>A
XM_011523830.1:c.478-52G>A	XP_011522132.1:n.478-52G>A
XR_934021.1:n.585-52G>A
XR_934022.1:n.585-52G>A
XR_934023.1:n.585-52G>A
XM_006721516.3:c.478-52G>A	XP_006721579.2:n.478-52G>A
XM_011523829.2:c.478-52G>A	XP_011522131.1:n.478-52G>A
XM_011523830.2:c.478-52G>A	XP_011522132.1:n.478-52G>A
XM_024450741.1:c.478-52G>A	XP_024306509.1:n.478-52G>A
XR_934021.2:n.537-52G>A
XR_934022.2:n.537-52G>A
XR_934023.2:n.537-52G>A
NM_000018.4:c.478-52G>A MANE Select	NP_000009.1:n.478-52G>A
NM_001033859.3:c.412-52G>A	NP_001029031.1:n.412-52G>A
NM_001270447.2:c.547-52G>A	NP_001257376.1:n.547-52G>A
NM_001270448.2:c.250-52G>A	NP_001257377.1:n.250-52G>A