Canonical Allele Identifier: CA624860668

Gene: ACADVL

Linked Data

• dbSNP Id: rs1482577349
• gnomAD v2: 17-7125423-C-T
• MyVariant Identifiers: chr17:g.7125423C>T (hg19) ; chr17:g.7222104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222104C>T , CM000679.2:g.7222104C>T	GRCh38
NC_000017.10:g.7125423C>T , CM000679.1:g.7125423C>T	GRCh37
NC_000017.9:g.7066147C>T	NCBI36
NG_007975.1:g.7271C>T
NG_008391.2:g.2947G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.752+23C>T MANE Select	ENSP00000349297.5:n.752+23C>T
ENST00000322910.9:c.*707+23C>T	ENSP00000325395.5:n.*707+23C>T
ENST00000350303.9:c.686+23C>T	ENSP00000344152.5:n.686+23C>T
ENST00000356839.9:c.752+23C>T	ENSP00000349297.5:n.752+23C>T
ENST00000543245.6:c.821+23C>T	ENSP00000438689.2:n.821+23C>T
ENST00000577191.5:n.852C>T
ENST00000581378.5:c.470+23C>T
ENST00000582379.1:n.136+23C>T
ENST00000583760.1:n.557C>T
NM_000018.3:c.752+23C>T	NP_000009.1:n.752+23C>T
NM_001033859.2:c.686+23C>T	NP_001029031.1:n.686+23C>T
NM_001270447.1:c.821+23C>T	NP_001257376.1:n.821+23C>T
NM_001270448.1:c.524+23C>T	NP_001257377.1:n.524+23C>T
XM_006721516.2:c.752+23C>T	XP_006721579.2:n.752+23C>T
XM_011523829.1:c.752+23C>T	XP_011522131.1:n.752+23C>T
XM_011523830.1:c.752+23C>T	XP_011522132.1:n.752+23C>T
XR_934021.1:n.859+23C>T
XR_934022.1:n.859+23C>T
XR_934023.1:n.859+23C>T
XM_006721516.3:c.752+23C>T	XP_006721579.2:n.752+23C>T
XM_011523829.2:c.752+23C>T	XP_011522131.1:n.752+23C>T
XM_011523830.2:c.752+23C>T	XP_011522132.1:n.752+23C>T
XM_024450741.1:c.752+23C>T	XP_024306509.1:n.752+23C>T
XR_934021.2:n.811+23C>T
XR_934022.2:n.811+23C>T
XR_934023.2:n.811+23C>T
NM_000018.4:c.752+23C>T MANE Select	NP_000009.1:n.752+23C>T
NM_001033859.3:c.686+23C>T	NP_001029031.1:n.686+23C>T
NM_001270447.2:c.821+23C>T	NP_001257376.1:n.821+23C>T
NM_001270448.2:c.524+23C>T	NP_001257377.1:n.524+23C>T