Canonical Allele Identifier: CA397723179

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124945T>G (hg19) ; chr17:g.7221626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221626T>G , CM000679.2:g.7221626T>G	GRCh38
NC_000017.10:g.7124945T>G , CM000679.1:g.7124945T>G	GRCh37
NC_000017.9:g.7065669T>G	NCBI36
NG_007975.1:g.6793T>G
NG_008391.2:g.3425A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.566T>G MANE Select	ENSP00000349297.5:p.Ile189Ser
ENST00000322910.9:c.*521T>G	ENSP00000325395.5:n.*521T>G
ENST00000350303.9:c.500T>G	ENSP00000344152.5:p.Ile167Ser
ENST00000356839.9:c.566T>G	ENSP00000349297.5:p.Ile189Ser
ENST00000543245.6:c.635T>G	ENSP00000438689.2:p.Ile212Ser
ENST00000577191.5:n.643T>G
ENST00000577433.5:n.774T>G
ENST00000577857.5:n.382T>G
ENST00000579286.5:n.747T>G
ENST00000579886.2:c.404T>G	ENSP00000463246.1:p.Ile135Ser
ENST00000580365.1:n.297T>G
ENST00000581378.5:c.284T>G
ENST00000581562.5:n.525-326T>G
ENST00000582166.1:n.547T>G
ENST00000583312.5:c.566T>G	ENSP00000467920.1:p.Ile189Ser
ENST00000583760.1:n.348T>G
NM_000018.3:c.566T>G	NP_000009.1:p.Ile189Ser
NM_001033859.2:c.500T>G	NP_001029031.1:p.Ile167Ser
NM_001270447.1:c.635T>G	NP_001257376.1:p.Ile212Ser
NM_001270448.1:c.338T>G	NP_001257377.1:p.Ile113Ser
XM_006721516.2:c.566T>G	XP_006721579.2:p.Ile189Ser
XM_011523829.1:c.566T>G	XP_011522131.1:p.Ile189Ser
XM_011523830.1:c.566T>G	XP_011522132.1:p.Ile189Ser
XR_934021.1:n.673T>G
XR_934022.1:n.673T>G
XR_934023.1:n.673T>G
XM_006721516.3:c.566T>G	XP_006721579.2:p.Ile189Ser
XM_011523829.2:c.566T>G	XP_011522131.1:p.Ile189Ser
XM_011523830.2:c.566T>G	XP_011522132.1:p.Ile189Ser
XM_024450741.1:c.566T>G	XP_024306509.1:p.Ile189Ser
XR_934021.2:n.625T>G
XR_934022.2:n.625T>G
XR_934023.2:n.625T>G
NM_000018.4:c.566T>G MANE Select	NP_000009.1:p.Ile189Ser
NM_001033859.3:c.500T>G	NP_001029031.1:p.Ile167Ser
NM_001270447.2:c.635T>G	NP_001257376.1:p.Ile212Ser
NM_001270448.2:c.338T>G	NP_001257377.1:p.Ile113Ser