Canonical Allele Identifier: CA397722342

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123931G>T (hg19) ; chr17:g.7220612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220612G>T , CM000679.2:g.7220612G>T	GRCh38
NC_000017.10:g.7123931G>T , CM000679.1:g.7123931G>T	GRCh37
NC_000017.9:g.7064655G>T	NCBI36
NG_007975.1:g.5779G>T
NG_008391.2:g.4439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.213G>T MANE Select	ENSP00000349297.5:p.Lys71Asn
ENST00000322910.9:c.*168G>T	ENSP00000325395.5:n.*168G>T
ENST00000350303.9:c.147G>T	ENSP00000344152.5:p.Lys49Asn
ENST00000356839.9:c.213G>T	ENSP00000349297.5:p.Lys71Asn
ENST00000543245.6:c.282G>T	ENSP00000438689.2:p.Lys94Asn
ENST00000577191.5:n.290G>T
ENST00000577433.5:n.421G>T
ENST00000577857.5:n.229-154G>T
ENST00000578269.5:n.660G>T
ENST00000578421.1:n.421G>T
ENST00000579286.5:n.394G>T
ENST00000579886.2:c.201+86G>T	ENSP00000463246.1:n.201+86G>T
ENST00000580263.5:n.377G>T
ENST00000581562.5:n.260G>T
ENST00000582056.5:n.303G>T
ENST00000582166.1:n.101G>T
ENST00000582356.5:n.412G>T
ENST00000583312.5:c.213G>T	ENSP00000467920.1:p.Lys71Asn
ENST00000584103.5:c.213G>T	ENSP00000465353.1:p.Lys71Asn
NM_000018.3:c.213G>T	NP_000009.1:p.Lys71Asn
NM_001033859.2:c.147G>T	NP_001029031.1:p.Lys49Asn
NM_001270447.1:c.282G>T	NP_001257376.1:p.Lys94Asn
NM_001270448.1:c.-16G>T	NP_001257377.1:n.-16G>T
XM_006721516.2:c.213G>T	XP_006721579.2:p.Lys71Asn
XM_011523829.1:c.213G>T	XP_011522131.1:p.Lys71Asn
XM_011523830.1:c.213G>T	XP_011522132.1:p.Lys71Asn
XR_934021.1:n.320G>T
XR_934022.1:n.320G>T
XR_934023.1:n.320G>T
XM_006721516.3:c.213G>T	XP_006721579.2:p.Lys71Asn
XM_011523829.2:c.213G>T	XP_011522131.1:p.Lys71Asn
XM_011523830.2:c.213G>T	XP_011522132.1:p.Lys71Asn
XM_024450741.1:c.213G>T	XP_024306509.1:p.Lys71Asn
XR_934021.2:n.272G>T
XR_934022.2:n.272G>T
XR_934023.2:n.272G>T
NM_000018.4:c.213G>T MANE Select	NP_000009.1:p.Lys71Asn
NM_001033859.3:c.147G>T	NP_001029031.1:p.Lys49Asn
NM_001270447.2:c.282G>T	NP_001257376.1:p.Lys94Asn
NM_001270448.2:c.-16G>T	NP_001257377.1:n.-16G>T