Canonical Allele Identifier: CA397722128

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123499G>C (hg19) ; chr17:g.7220180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220180G>C , CM000679.2:g.7220180G>C	GRCh38
NC_000017.10:g.7123499G>C , CM000679.1:g.7123499G>C	GRCh37
NC_000017.9:g.7064223G>C	NCBI36
NG_007975.1:g.5347G>C
NG_008391.2:g.4871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.121G>C MANE Select	ENSP00000349297.5:p.Ala41Pro
ENST00000322910.9:c.*76G>C	ENSP00000325395.5:n.*76G>C
ENST00000350303.9:c.121G>C	ENSP00000344152.5:p.Ala41Pro
ENST00000356839.9:c.121G>C	ENSP00000349297.5:p.Ala41Pro
ENST00000543245.6:c.190G>C	ENSP00000438689.2:p.Ala64Pro
ENST00000577191.5:n.198G>C
ENST00000577857.5:n.211G>C
ENST00000578269.5:n.228G>C
ENST00000578421.1:n.255G>C
ENST00000579286.5:n.228G>C
ENST00000579886.2:c.121G>C	ENSP00000463246.1:p.Ala41Pro
ENST00000580263.5:n.211G>C
ENST00000581562.5:n.168G>C
ENST00000582056.5:n.211G>C
ENST00000582356.5:n.246G>C
ENST00000583312.5:c.121G>C	ENSP00000467920.1:p.Ala41Pro
ENST00000584103.5:c.121G>C	ENSP00000465353.1:p.Ala41Pro
NM_000018.3:c.121G>C	NP_000009.1:p.Ala41Pro
NM_001033859.2:c.121G>C	NP_001029031.1:p.Ala41Pro
NM_001270447.1:c.190G>C	NP_001257376.1:p.Ala64Pro
NM_001270448.1:c.-108G>C	NP_001257377.1:n.-108G>C
XM_006721516.2:c.121G>C	XP_006721579.2:p.Ala41Pro
XM_011523829.1:c.121G>C	XP_011522131.1:p.Ala41Pro
XM_011523830.1:c.121G>C	XP_011522132.1:p.Ala41Pro
XR_934021.1:n.228G>C
XR_934022.1:n.228G>C
XR_934023.1:n.228G>C
XM_006721516.3:c.121G>C	XP_006721579.2:p.Ala41Pro
XM_011523829.2:c.121G>C	XP_011522131.1:p.Ala41Pro
XM_011523830.2:c.121G>C	XP_011522132.1:p.Ala41Pro
XM_024450741.1:c.121G>C	XP_024306509.1:p.Ala41Pro
XR_934021.2:n.180G>C
XR_934022.2:n.180G>C
XR_934023.2:n.180G>C
NM_000018.4:c.121G>C MANE Select	NP_000009.1:p.Ala41Pro
NM_001033859.3:c.121G>C	NP_001029031.1:p.Ala41Pro
NM_001270447.2:c.190G>C	NP_001257376.1:p.Ala64Pro
NM_001270448.2:c.-108G>C	NP_001257377.1:n.-108G>C