Canonical Allele Identifier: CA624860768

Gene: ACADVL

Linked Data

• dbSNP Id: rs1334678822
• gnomAD v2: 17-7127785-C-T
• gnomAD v3: 17-7224466-C-T
• gnomAD v4: 17-7224466-C-T
• MyVariant Identifiers: chr17:g.7127785C>T (hg19) ; chr17:g.7224466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224466C>T , CM000679.2:g.7224466C>T	GRCh38
NC_000017.10:g.7127785C>T , CM000679.1:g.7127785C>T	GRCh37
NC_000017.9:g.7068509C>T	NCBI36
NG_007975.1:g.9633C>T
NG_008391.2:g.585G>A
NG_033038.1:g.15079G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1606-14C>T MANE Select	ENSP00000349297.5:n.1606-14C>T
ENST00000322910.9:c.*1561-14C>T	ENSP00000325395.5:n.*1561-14C>T
ENST00000350303.9:c.1540-14C>T	ENSP00000344152.5:n.1540-14C>T
ENST00000356839.9:c.1606-14C>T	ENSP00000349297.5:n.1606-14C>T
ENST00000542255.6:c.464-14C>T
ENST00000543245.6:c.1675-14C>T	ENSP00000438689.2:n.1675-14C>T
ENST00000578319.5:n.173C>T
ENST00000578711.1:n.962C>T
ENST00000578809.5:n.178-14C>T
ENST00000579391.1:n.214-18C>T
ENST00000579425.5:n.722-14C>T
ENST00000579546.1:c.345-18C>T
ENST00000579894.5:n.393-14C>T
ENST00000582450.1:n.114-14C>T
ENST00000583074.5:n.227-14C>T
ENST00000583850.5:n.381-18C>T
ENST00000583858.5:c.537-14C>T
ENST00000585203.6:n.797-14C>T
NM_000018.3:c.1606-14C>T	NP_000009.1:n.1606-14C>T
NM_001033859.2:c.1540-14C>T	NP_001029031.1:n.1540-14C>T
NM_001270447.1:c.1675-14C>T	NP_001257376.1:n.1675-14C>T
NM_001270448.1:c.1378-14C>T	NP_001257377.1:n.1378-14C>T
XM_006721516.2:c.1606-14C>T	XP_006721579.2:n.1606-14C>T
XM_011523829.1:c.1508-18C>T	XP_011522131.1:n.1508-18C>T
XM_011523830.1:c.1508-18C>T	XP_011522132.1:n.1508-18C>T
XR_934021.1:n.1713-18C>T
XR_934022.1:n.1615-14C>T
XR_934023.1:n.1615-14C>T
XM_006721516.3:c.1606-14C>T	XP_006721579.2:n.1606-14C>T
XM_011523829.2:c.1508-18C>T	XP_011522131.1:n.1508-18C>T
XM_011523830.2:c.1508-18C>T	XP_011522132.1:n.1508-18C>T
XM_024450741.1:c.1580C>T	XP_024306509.1:p.Ser527Phe
XR_934021.2:n.1665-18C>T
XR_934022.2:n.1567-14C>T
XR_934023.2:n.1567-14C>T
NM_000018.4:c.1606-14C>T MANE Select	NP_000009.1:n.1606-14C>T
NM_001033859.3:c.1540-14C>T	NP_001029031.1:n.1540-14C>T
NM_001270447.2:c.1675-14C>T	NP_001257376.1:n.1675-14C>T
NM_001270448.2:c.1378-14C>T	NP_001257377.1:n.1378-14C>T