Canonical Allele Identifier: CA397725075

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127375T>C (hg19) ; chr17:g.7224056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224056T>C , CM000679.2:g.7224056T>C	GRCh38
NC_000017.10:g.7127375T>C , CM000679.1:g.7127375T>C	GRCh37
NC_000017.9:g.7068099T>C	NCBI36
NG_007975.1:g.9223T>C
NG_008391.2:g.995A>G
NG_033038.1:g.15489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1421T>C MANE Select	ENSP00000349297.5:p.Leu474Pro
ENST00000322910.9:c.*1376T>C	ENSP00000325395.5:n.*1376T>C
ENST00000350303.9:c.1355T>C	ENSP00000344152.5:p.Leu452Pro
ENST00000356839.9:c.1421T>C	ENSP00000349297.5:p.Leu474Pro
ENST00000542255.6:c.279T>C
ENST00000543245.6:c.1490T>C	ENSP00000438689.2:p.Leu497Pro
ENST00000578711.1:n.552T>C
ENST00000579425.5:n.537T>C
ENST00000579546.1:c.258T>C
ENST00000579894.5:n.132T>C
ENST00000583074.5:n.140T>C
ENST00000583850.5:n.196T>C
ENST00000583858.5:c.450T>C
ENST00000585203.6:n.612T>C
NM_000018.3:c.1421T>C	NP_000009.1:p.Leu474Pro
NM_001033859.2:c.1355T>C	NP_001029031.1:p.Leu452Pro
NM_001270447.1:c.1490T>C	NP_001257376.1:p.Leu497Pro
NM_001270448.1:c.1193T>C	NP_001257377.1:p.Leu398Pro
XM_006721516.2:c.1421T>C	XP_006721579.2:p.Leu474Pro
XM_011523829.1:c.1421T>C	XP_011522131.1:p.Leu474Pro
XM_011523830.1:c.1421T>C	XP_011522132.1:p.Leu474Pro
XR_934021.1:n.1528T>C
XR_934022.1:n.1528T>C
XR_934023.1:n.1528T>C
XM_006721516.3:c.1421T>C	XP_006721579.2:p.Leu474Pro
XM_011523829.2:c.1421T>C	XP_011522131.1:p.Leu474Pro
XM_011523830.2:c.1421T>C	XP_011522132.1:p.Leu474Pro
XM_024450741.1:c.1421T>C	XP_024306509.1:p.Leu474Pro
XR_934021.2:n.1480T>C
XR_934022.2:n.1480T>C
XR_934023.2:n.1480T>C
NM_000018.4:c.1421T>C MANE Select	NP_000009.1:p.Leu474Pro
NM_001033859.3:c.1355T>C	NP_001029031.1:p.Leu452Pro
NM_001270447.2:c.1490T>C	NP_001257376.1:p.Leu497Pro
NM_001270448.2:c.1193T>C	NP_001257377.1:p.Leu398Pro