Canonical Allele Identifier: CA10629574

Gene: CYP51A1 AKAP9

Linked Data

• ClinVar Variation Id: 360858
• ClinVar RCV Id: RCV000400313
• dbSNP Id: rs886062481
• gnomAD v4: 7-92110275-A-T
• MyVariant Identifiers: chr7:g.91739589A>T (hg19) ; chr7:g.92110275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92110275A>T , CM000669.2:g.92110275A>T	GRCh38
NC_000007.13:g.91739589A>T , CM000669.1:g.91739589A>T	GRCh37
NC_000007.12:g.91577525A>T	NCBI36
NG_007968.1:g.29252T>A
NG_011623.1:g.174401A>T , LRG_331:g.174401A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691309.1:c.1351+6769T>A (CYP51A1)	ENSP00000510368.1:n.1351+6769T>A
ENST00000356239.8:c.*116A>T (AKAP9) MANE Select	ENSP00000348573.3:n.*116A>T
ENST00000359028.7:c.11912A>T (AKAP9)	ENSP00000351922.4:n.11912A>T
ENST00000394534.7:c.4832A>T (AKAP9)	ENSP00000378042.3:n.4832A>T
ENST00000486313.2:c.972A>T (AKAP9)	ENSP00000505389.1:n.972A>T
ENST00000487692.2:n.3599A>T (AKAP9)
ENST00000491695.2:c.*116A>T (AKAP9)	ENSP00000494626.2:n.*116A>T
ENST00000679448.1:c.*2720A>T (AKAP9)	ENSP00000505889.1:n.*2720A>T
ENST00000679457.1:c.*1896A>T (AKAP9)	ENSP00000505450.1:n.*1896A>T
ENST00000679474.1:n.13024A>T (AKAP9)
ENST00000679521.1:c.*116A>T (AKAP9)	ENSP00000505456.1:n.*116A>T
ENST00000679821.1:c.*116A>T (AKAP9)	ENSP00000506040.1:n.*116A>T
ENST00000680047.1:n.13510A>T (AKAP9)
ENST00000680072.1:c.*116A>T (AKAP9)	ENSP00000506581.1:n.*116A>T
ENST00000680181.1:c.*116A>T (AKAP9)	ENSP00000505548.1:n.*116A>T
ENST00000680365.1:c.5479A>T (AKAP9)	ENSP00000506019.1:n.5479A>T
ENST00000680513.1:c.*116A>T (AKAP9)	ENSP00000505284.1:n.*116A>T
ENST00000680534.1:c.*116A>T (AKAP9)	ENSP00000506674.1:n.*116A>T
ENST00000680766.1:c.*116A>T (AKAP9)	ENSP00000505204.1:n.*116A>T
ENST00000680952.1:c.*116A>T (AKAP9)	ENSP00000506407.1:n.*116A>T
ENST00000681216.1:c.5600A>T (AKAP9)	ENSP00000505551.1:n.5600A>T
ENST00000681412.1:c.*1556A>T (AKAP9)	ENSP00000506486.1:n.*1556A>T
ENST00000356239.7:c.*116A>T (AKAP9)	ENSP00000348573.3:n.*116A>T
ENST00000359028.6:c.11849A>T (AKAP9)	ENSP00000351922.3:n.11849A>T
ENST00000486313.1:n.392A>T (AKAP9)
ENST00000487258.5:n.3590A>T (AKAP9)
NM_005751.4:c.*116A>T , LRG_331t1:c.*116A>T (AKAP9)	NP_005742.4:n.*116A>T
NM_147185.2:c.*116A>T (AKAP9)	NP_671714.1:n.*116A>T
XM_006715827.1:c.*116A>T (AKAP9)	XP_006715890.1:n.*116A>T
XM_011515710.1:c.*116A>T (AKAP9)	XP_011514012.1:n.*116A>T
XM_011515714.1:c.*116A>T (AKAP9)	XP_011514016.1:n.*116A>T
XM_011515718.1:c.*116A>T (AKAP9)	XP_011514020.1:n.*116A>T
XM_011515719.1:c.*116A>T (AKAP9)	XP_011514021.1:n.*116A>T
XM_017011642.2:c.*1556A>T (AKAP9)	XP_016867131.1:n.*1556A>T
XM_017011643.2:c.*1556A>T (AKAP9)	XP_016867132.1:n.*1556A>T
XM_017011644.2:c.*116A>T (AKAP9)	XP_016867133.1:n.*116A>T
XM_017011645.2:c.*1556A>T (AKAP9)	XP_016867134.1:n.*1556A>T
XM_017011646.2:c.*116A>T (AKAP9)	XP_016867135.1:n.*116A>T
XM_017011647.2:c.*1556A>T (AKAP9)	XP_016867136.1:n.*1556A>T
XM_017011648.2:c.*1556A>T (AKAP9)	XP_016867137.1:n.*1556A>T
XM_017011649.2:c.*116A>T (AKAP9)	XP_016867138.1:n.*116A>T
XM_017011650.2:c.*1556A>T (AKAP9)	XP_016867139.1:n.*1556A>T
XM_017011651.2:c.*1556A>T (AKAP9)	XP_016867140.1:n.*1556A>T
XM_017011652.2:c.*1556A>T (AKAP9)	XP_016867141.1:n.*1556A>T
XM_017011653.2:c.*1556A>T (AKAP9)	XP_016867142.1:n.*1556A>T
XM_017011654.2:c.*1556A>T (AKAP9)	XP_016867143.1:n.*1556A>T
XM_017011655.2:c.*1556A>T (AKAP9)	XP_016867144.1:n.*1556A>T
XM_017011656.2:c.*1556A>T (AKAP9)	XP_016867145.1:n.*1556A>T
XM_017011657.2:c.*1556A>T (AKAP9)	XP_016867146.1:n.*1556A>T
XM_017011658.2:c.*1556A>T (AKAP9)	XP_016867147.1:n.*1556A>T
XM_017011659.2:c.*1556A>T (AKAP9)	XP_016867148.1:n.*1556A>T
XM_017011660.2:c.*116A>T (AKAP9)	XP_016867149.1:n.*116A>T
XM_024446631.1:c.*1556A>T (AKAP9)	XP_024302399.1:n.*1556A>T
NM_147185.3:c.*116A>T (AKAP9)	NP_671714.1:n.*116A>T
NM_001379277.1:c.*116A>T (AKAP9)	NP_001366206.1:n.*116A>T
NM_005751.5:c.*116A>T (AKAP9) MANE Select	NP_005742.4:n.*116A>T