Canonical Allele Identifier: CA8337753

Gene: ACADVL

Linked Data

• dbSNP Id: rs747257804
• ExAC: 17:7124909 C / T
• gnomAD v2: 17-7124909-C-T
• gnomAD v4: 17-7221590-C-T
• MyVariant Identifiers: chr17:g.7124909C>T (hg19) ; chr17:g.7221590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221590C>T , CM000679.2:g.7221590C>T	GRCh38
NC_000017.10:g.7124909C>T , CM000679.1:g.7124909C>T	GRCh37
NC_000017.9:g.7065633C>T	NCBI36
NG_007975.1:g.6757C>T
NG_008391.2:g.3461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.530C>T MANE Select	ENSP00000349297.5:p.Thr177Ile
ENST00000322910.9:c.*485C>T	ENSP00000325395.5:n.*485C>T
ENST00000350303.9:c.464C>T	ENSP00000344152.5:p.Thr155Ile
ENST00000356839.9:c.530C>T	ENSP00000349297.5:p.Thr177Ile
ENST00000543245.6:c.599C>T	ENSP00000438689.2:p.Thr200Ile
ENST00000577191.5:n.607C>T
ENST00000577433.5:n.738C>T
ENST00000577857.5:n.346C>T
ENST00000579286.5:n.711C>T
ENST00000579886.2:c.368C>T	ENSP00000463246.1:p.Thr123Ile
ENST00000580365.1:n.261C>T
ENST00000581378.5:c.248C>T
ENST00000581562.5:n.525-362C>T
ENST00000582166.1:n.511C>T
ENST00000583312.5:c.530C>T	ENSP00000467920.1:p.Thr177Ile
ENST00000583760.1:n.312C>T
NM_000018.3:c.530C>T	NP_000009.1:p.Thr177Ile
NM_001033859.2:c.464C>T	NP_001029031.1:p.Thr155Ile
NM_001270447.1:c.599C>T	NP_001257376.1:p.Thr200Ile
NM_001270448.1:c.302C>T	NP_001257377.1:p.Thr101Ile
XM_006721516.2:c.530C>T	XP_006721579.2:p.Thr177Ile
XM_011523829.1:c.530C>T	XP_011522131.1:p.Thr177Ile
XM_011523830.1:c.530C>T	XP_011522132.1:p.Thr177Ile
XR_934021.1:n.637C>T
XR_934022.1:n.637C>T
XR_934023.1:n.637C>T
XM_006721516.3:c.530C>T	XP_006721579.2:p.Thr177Ile
XM_011523829.2:c.530C>T	XP_011522131.1:p.Thr177Ile
XM_011523830.2:c.530C>T	XP_011522132.1:p.Thr177Ile
XM_024450741.1:c.530C>T	XP_024306509.1:p.Thr177Ile
XR_934021.2:n.589C>T
XR_934022.2:n.589C>T
XR_934023.2:n.589C>T
NM_000018.4:c.530C>T MANE Select	NP_000009.1:p.Thr177Ile
NM_001033859.3:c.464C>T	NP_001029031.1:p.Thr155Ile
NM_001270447.2:c.599C>T	NP_001257376.1:p.Thr200Ile
NM_001270448.2:c.302C>T	NP_001257377.1:p.Thr101Ile