Canonical Allele Identifier: CA397725490

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127803T>C (hg19) ; chr17:g.7224484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224484T>C , CM000679.2:g.7224484T>C	GRCh38
NC_000017.10:g.7127803T>C , CM000679.1:g.7127803T>C	GRCh37
NC_000017.9:g.7068527T>C	NCBI36
NG_007975.1:g.9651T>C
NG_008391.2:g.567A>G
NG_033038.1:g.15061A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1610T>C MANE Select	ENSP00000349297.5:p.Val537Ala
ENST00000322910.9:c.*1565T>C	ENSP00000325395.5:n.*1565T>C
ENST00000350303.9:c.1544T>C	ENSP00000344152.5:p.Val515Ala
ENST00000356839.9:c.1610T>C	ENSP00000349297.5:p.Val537Ala
ENST00000542255.6:c.468T>C
ENST00000543245.6:c.1679T>C	ENSP00000438689.2:p.Val560Ala
ENST00000578319.5:n.191T>C
ENST00000578711.1:n.980T>C
ENST00000578809.5:n.182T>C
ENST00000579391.1:n.214T>C
ENST00000579425.5:n.726T>C
ENST00000579546.1:c.345T>C
ENST00000579894.5:n.397T>C
ENST00000582450.1:n.118T>C
ENST00000583074.5:n.231T>C
ENST00000583850.5:n.381T>C
ENST00000583858.5:c.541T>C
ENST00000585203.6:n.801T>C
NM_000018.3:c.1610T>C	NP_000009.1:p.Val537Ala
NM_001033859.2:c.1544T>C	NP_001029031.1:p.Val515Ala
NM_001270447.1:c.1679T>C	NP_001257376.1:p.Val560Ala
NM_001270448.1:c.1382T>C	NP_001257377.1:p.Val461Ala
XM_006721516.2:c.1610T>C	XP_006721579.2:p.Val537Ala
XM_011523829.1:c.1508T>C	XP_011522131.1:p.Val503Ala
XM_011523830.1:c.1508T>C	XP_011522132.1:p.Val503Ala
XR_934021.1:n.1713T>C
XR_934022.1:n.1619T>C
XR_934023.1:n.1619T>C
XM_006721516.3:c.1610T>C	XP_006721579.2:p.Val537Ala
XM_011523829.2:c.1508T>C	XP_011522131.1:p.Val503Ala
XM_011523830.2:c.1508T>C	XP_011522132.1:p.Val503Ala
XM_024450741.1:c.1598T>C	XP_024306509.1:p.Val533Ala
XR_934021.2:n.1665T>C
XR_934022.2:n.1571T>C
XR_934023.2:n.1571T>C
NM_000018.4:c.1610T>C MANE Select	NP_000009.1:p.Val537Ala
NM_001033859.3:c.1544T>C	NP_001029031.1:p.Val515Ala
NM_001270447.2:c.1679T>C	NP_001257376.1:p.Val560Ala
NM_001270448.2:c.1382T>C	NP_001257377.1:p.Val461Ala