Canonical Allele Identifier: CA624860797

Gene: ACADVL

Linked Data

• dbSNP Id: rs1304358645
• gnomAD v2: 17-7127930-C-A
• gnomAD v3: 17-7224611-C-A
• gnomAD v4: 17-7224611-C-A
• MyVariant Identifiers: chr17:g.7127930C>A (hg19) ; chr17:g.7127930_7127931delinsAA (hg19) ; chr17:g.7224611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224611C>A , CM000679.2:g.7224611C>A	GRCh38
NC_000017.10:g.7127930C>A , CM000679.1:g.7127930C>A	GRCh37
NC_000017.9:g.7068654C>A	NCBI36
NG_007975.1:g.9778C>A
NG_008391.2:g.440G>T
NG_033038.1:g.14934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-31C>A MANE Select	ENSP00000349297.5:n.1679-31C>A
ENST00000322910.9:c.*1634-31C>A	ENSP00000325395.5:n.*1634-31C>A
ENST00000350303.9:c.1613-31C>A	ENSP00000344152.5:n.1613-31C>A
ENST00000356839.9:c.1679-31C>A	ENSP00000349297.5:n.1679-31C>A
ENST00000542255.6:c.536+59C>A
ENST00000543245.6:c.1748-31C>A	ENSP00000438689.2:n.1748-31C>A
ENST00000578319.5:n.260-31C>A
ENST00000578711.1:n.1107C>A
ENST00000578809.5:n.251-31C>A
ENST00000579391.1:n.341C>A
ENST00000579425.5:n.795-31C>A
ENST00000579546.1:c.414-31C>A
ENST00000582450.1:n.245C>A
ENST00000583074.5:n.299+59C>A
ENST00000583848.5:c.65-51C>A	ENSP00000466487.1:n.65-51C>A
ENST00000583850.5:n.450-31C>A
ENST00000583858.5:c.610-31C>A
ENST00000585203.6:n.870-31C>A
NM_000018.3:c.1679-31C>A	NP_000009.1:n.1679-31C>A
NM_001033859.2:c.1613-31C>A	NP_001029031.1:n.1613-31C>A
NM_001270447.1:c.1748-31C>A	NP_001257376.1:n.1748-31C>A
NM_001270448.1:c.1451-31C>A	NP_001257377.1:n.1451-31C>A
XM_006721516.2:c.1678+59C>A	XP_006721579.2:n.1678+59C>A
XM_011523829.1:c.1576+59C>A	XP_011522131.1:n.1576+59C>A
XM_011523830.1:c.1577-31C>A	XP_011522132.1:n.1577-31C>A
XR_934021.1:n.1782-31C>A
XR_934022.1:n.1688-31C>A
XR_934023.1:n.1687+59C>A
XM_006721516.3:c.1678+59C>A	XP_006721579.2:n.1678+59C>A
XM_011523829.2:c.1576+59C>A	XP_011522131.1:n.1576+59C>A
XM_011523830.2:c.1577-31C>A	XP_011522132.1:n.1577-31C>A
XM_024450741.1:c.1667-31C>A	XP_024306509.1:n.1667-31C>A
XR_934021.2:n.1734-31C>A
XR_934022.2:n.1640-31C>A
XR_934023.2:n.1639+59C>A
NM_000018.4:c.1679-31C>A MANE Select	NP_000009.1:n.1679-31C>A
NM_001033859.3:c.1613-31C>A	NP_001029031.1:n.1613-31C>A
NM_001270447.2:c.1748-31C>A	NP_001257376.1:n.1748-31C>A
NM_001270448.2:c.1451-31C>A	NP_001257377.1:n.1451-31C>A