Canonical Allele Identifier: CA397725403

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127680G>C (hg19) ; chr17:g.7224361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224361G>C , CM000679.2:g.7224361G>C	GRCh38
NC_000017.10:g.7127680G>C , CM000679.1:g.7127680G>C	GRCh37
NC_000017.9:g.7068404G>C	NCBI36
NG_007975.1:g.9528G>C
NG_008391.2:g.690C>G
NG_033038.1:g.15184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1573G>C MANE Select	ENSP00000349297.5:p.Val525Leu
ENST00000322910.9:c.*1528G>C	ENSP00000325395.5:n.*1528G>C
ENST00000350303.9:c.1507G>C	ENSP00000344152.5:p.Val503Leu
ENST00000356839.9:c.1573G>C	ENSP00000349297.5:p.Val525Leu
ENST00000542255.6:c.431G>C
ENST00000543245.6:c.1642G>C	ENSP00000438689.2:p.Val548Leu
ENST00000578319.5:n.68G>C
ENST00000578711.1:n.857G>C
ENST00000578809.5:n.145G>C
ENST00000579391.1:n.181G>C
ENST00000579425.5:n.689G>C
ENST00000579546.1:c.312G>C
ENST00000579894.5:n.360G>C
ENST00000582450.1:n.81G>C
ENST00000583074.5:n.194G>C
ENST00000583850.5:n.348G>C
ENST00000583858.5:c.504G>C
ENST00000585203.6:n.764G>C
NM_000018.3:c.1573G>C	NP_000009.1:p.Val525Leu
NM_001033859.2:c.1507G>C	NP_001029031.1:p.Val503Leu
NM_001270447.1:c.1642G>C	NP_001257376.1:p.Val548Leu
NM_001270448.1:c.1345G>C	NP_001257377.1:p.Val449Leu
XM_006721516.2:c.1573G>C	XP_006721579.2:p.Val525Leu
XM_011523829.1:c.1475G>C	XP_011522131.1:p.Cys492Ser
XM_011523830.1:c.1475G>C	XP_011522132.1:p.Cys492Ser
XR_934021.1:n.1680G>C
XR_934022.1:n.1582G>C
XR_934023.1:n.1582G>C
XM_006721516.3:c.1573G>C	XP_006721579.2:p.Val525Leu
XM_011523829.2:c.1475G>C	XP_011522131.1:p.Cys492Ser
XM_011523830.2:c.1475G>C	XP_011522132.1:p.Cys492Ser
XM_024450741.1:c.1475G>C	XP_024306509.1:p.Cys492Ser
XR_934021.2:n.1632G>C
XR_934022.2:n.1534G>C
XR_934023.2:n.1534G>C
NM_000018.4:c.1573G>C MANE Select	NP_000009.1:p.Val525Leu
NM_001033859.3:c.1507G>C	NP_001029031.1:p.Val503Leu
NM_001270447.2:c.1642G>C	NP_001257376.1:p.Val548Leu
NM_001270448.2:c.1345G>C	NP_001257377.1:p.Val449Leu