Canonical Allele Identifier: CA497694371

Gene: ACADVL

Linked Data

• dbSNP Id: rs1322869375
• gnomAD v2: 17-7127864-G-C
• gnomAD v4: 17-7224545-G-C
• MyVariant Identifiers: chr17:g.7127864G>C (hg19) ; chr17:g.7224545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224545G>C , CM000679.2:g.7224545G>C	GRCh38
NC_000017.10:g.7127864G>C , CM000679.1:g.7127864G>C	GRCh37
NC_000017.9:g.7068588G>C	NCBI36
NG_007975.1:g.9712G>C
NG_008391.2:g.506C>G
NG_033038.1:g.15000C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1671G>C MANE Select	ENSP00000349297.5:p.Gly557=
ENST00000322910.9:c.*1626G>C	ENSP00000325395.5:n.*1626G>C
ENST00000350303.9:c.1605G>C	ENSP00000344152.5:p.Gly535=
ENST00000356839.9:c.1671G>C	ENSP00000349297.5:p.Gly557=
ENST00000542255.6:c.529G>C
ENST00000543245.6:c.1740G>C	ENSP00000438689.2:p.Gly580=
ENST00000578319.5:n.252G>C
ENST00000578711.1:n.1041G>C
ENST00000578809.5:n.243G>C
ENST00000579391.1:n.275G>C
ENST00000579425.5:n.787G>C
ENST00000579546.1:c.406G>C
ENST00000582450.1:n.179G>C
ENST00000583074.5:n.292G>C
ENST00000583848.5:c.57G>C	ENSP00000466487.1:p.Gly19=
ENST00000583850.5:n.442G>C
ENST00000583858.5:c.602G>C
ENST00000585203.6:n.862G>C
NM_000018.3:c.1671G>C	NP_000009.1:p.Gly557=
NM_001033859.2:c.1605G>C	NP_001029031.1:p.Gly535=
NM_001270447.1:c.1740G>C	NP_001257376.1:p.Gly580=
NM_001270448.1:c.1443G>C	NP_001257377.1:p.Gly481=
XM_006721516.2:c.1671G>C	XP_006721579.2:p.Gly557=
XM_011523829.1:c.1569G>C	XP_011522131.1:p.Gly523=
XM_011523830.1:c.1569G>C	XP_011522132.1:p.Gly523=
XR_934021.1:n.1774G>C
XR_934022.1:n.1680G>C
XR_934023.1:n.1680G>C
XM_006721516.3:c.1671G>C	XP_006721579.2:p.Gly557=
XM_011523829.2:c.1569G>C	XP_011522131.1:p.Gly523=
XM_011523830.2:c.1569G>C	XP_011522132.1:p.Gly523=
XM_024450741.1:c.1659G>C	XP_024306509.1:p.Gly553=
XR_934021.2:n.1726G>C
XR_934022.2:n.1632G>C
XR_934023.2:n.1632G>C
NM_000018.4:c.1671G>C MANE Select	NP_000009.1:p.Gly557=
NM_001033859.3:c.1605G>C	NP_001029031.1:p.Gly535=
NM_001270447.2:c.1740G>C	NP_001257376.1:p.Gly580=
NM_001270448.2:c.1443G>C	NP_001257377.1:p.Gly481=