Canonical Allele Identifier: CA10624337

Gene: CYP51A1 AKAP9

Linked Data

• ClinVar Variation Id: 360841
• ClinVar RCV Id: RCV000340650
• dbSNP Id: rs886062478
• gnomAD v2: 7-91714971-A-G
• gnomAD v4: 7-92085657-A-G
• MyVariant Identifiers: chr7:g.91714971A>G (hg19) ; chr7:g.92085657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92085657A>G , CM000669.2:g.92085657A>G	GRCh38
NC_000007.13:g.91714971A>G , CM000669.1:g.91714971A>G	GRCh37
NC_000007.12:g.91552907A>G	NCBI36
NG_011623.1:g.149783A>G , LRG_331:g.149783A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691309.1:c.1352-55T>C (CYP51A1)	ENSP00000510368.1:n.1352-55T>C
ENST00000356239.8:c.8995A>G (AKAP9) MANE Select	ENSP00000348573.3:p.Thr2999Ala
ENST00000359028.7:c.9067A>G (AKAP9)	ENSP00000351922.4:p.Thr3023Ala
ENST00000394534.7:c.2488A>G (AKAP9)	ENSP00000378042.3:p.Thr830Ala
ENST00000435423.2:n.835A>G (AKAP9)
ENST00000491695.2:c.3640A>G (AKAP9)	ENSP00000494626.2:p.Thr1214Ala
ENST00000679448.1:c.8971A>G (AKAP9)	ENSP00000505889.1:p.Thr2991Ala
ENST00000679457.1:c.8971A>G (AKAP9)	ENSP00000505450.1:p.Thr2991Ala
ENST00000679474.1:n.9193A>G (AKAP9)
ENST00000679521.1:c.8941A>G (AKAP9)	ENSP00000505456.1:p.Thr2981Ala
ENST00000679722.1:n.9217A>G (AKAP9)
ENST00000679821.1:c.8737A>G (AKAP9)	ENSP00000506040.1:p.Thr2913Ala
ENST00000680047.1:n.9193A>G (AKAP9)
ENST00000680072.1:c.8818A>G (AKAP9)	ENSP00000506581.1:p.Thr2940Ala
ENST00000680181.1:c.8902A>G (AKAP9)	ENSP00000505548.1:p.Thr2968Ala
ENST00000680365.1:c.2488A>G (AKAP9)	ENSP00000506019.1:p.Thr830Ala
ENST00000680513.1:c.8854A>G (AKAP9)	ENSP00000505284.1:p.Thr2952Ala
ENST00000680534.1:c.9034A>G (AKAP9)	ENSP00000506674.1:p.Thr3012Ala
ENST00000680766.1:c.8971A>G (AKAP9)	ENSP00000505204.1:p.Thr2991Ala
ENST00000680952.1:c.8971A>G (AKAP9)	ENSP00000506407.1:p.Thr2991Ala
ENST00000681216.1:c.2332A>G (AKAP9)	ENSP00000505551.1:p.Thr778Ala
ENST00000681412.1:c.8995A>G (AKAP9)	ENSP00000506486.1:p.Thr2999Ala
ENST00000681722.1:c.8971A>G (AKAP9)	ENSP00000506566.1:p.Thr2991Ala
ENST00000356239.7:c.8995A>G (AKAP9)	ENSP00000348573.3:p.Thr2999Ala
ENST00000358100.6:c.8854A>G (AKAP9)	ENSP00000350813.3:p.Thr2952Ala
ENST00000359028.6:c.9004A>G (AKAP9)	ENSP00000351922.3:p.Thr3002Ala
ENST00000394534.6:c.2533A>G (AKAP9)	ENSP00000378042.2:p.Thr845Ala
ENST00000435423.1:c.429A>G (AKAP9)
NM_005751.4:c.8995A>G , LRG_331t1:c.8995A>G (AKAP9)	NP_005742.4:p.Thr2999Ala
NM_147185.2:c.8971A>G (AKAP9)	NP_671714.1:p.Thr2991Ala
XM_006715827.1:c.8854A>G (AKAP9)	XP_006715890.1:p.Thr2952Ala
XM_011515709.1:c.9142A>G (AKAP9)	XP_011514011.1:p.Thr3048Ala
XM_011515710.1:c.9166A>G (AKAP9)	XP_011514012.1:p.Thr3056Ala
XM_011515711.1:c.9106A>G (AKAP9)	XP_011514013.1:p.Thr3036Ala
XM_011515712.1:c.9103A>G (AKAP9)	XP_011514014.1:p.Thr3035Ala
XM_011515713.1:c.9088A>G (AKAP9)	XP_011514015.1:p.Thr3030Ala
XM_011515714.1:c.9127A>G (AKAP9)	XP_011514016.1:p.Thr3043Ala
XM_011515716.1:c.9046A>G (AKAP9)	XP_011514018.1:p.Thr3016Ala
XM_011515717.1:c.9001A>G (AKAP9)	XP_011514019.1:p.Thr3001Ala
XM_011515718.1:c.9031A>G (AKAP9)	XP_011514020.1:p.Thr3011Ala
XM_011515719.1:c.9007A>G (AKAP9)	XP_011514021.1:p.Thr3003Ala
XM_011515720.1:c.8890A>G (AKAP9)	XP_011514022.1:p.Thr2964Ala
XM_011515721.1:c.3655A>G (AKAP9)	XP_011514023.1:p.Thr1219Ala
XM_011515722.1:c.3616A>G (AKAP9)	XP_011514024.1:p.Thr1206Ala
XM_017011642.2:c.9130A>G (AKAP9)	XP_016867131.1:p.Thr3044Ala
XM_017011643.2:c.9091A>G (AKAP9)	XP_016867132.1:p.Thr3031Ala
XM_017011644.2:c.9130A>G (AKAP9)	XP_016867133.1:p.Thr3044Ala
XM_017011645.2:c.9076A>G (AKAP9)	XP_016867134.1:p.Thr3026Ala
XM_017011646.2:c.9091A>G (AKAP9)	XP_016867135.1:p.Thr3031Ala
XM_017011647.2:c.9037A>G (AKAP9)	XP_016867136.1:p.Thr3013Ala
XM_017011648.2:c.9034A>G (AKAP9)	XP_016867137.1:p.Thr3012Ala
XM_017011649.2:c.9067A>G (AKAP9)	XP_016867138.1:p.Thr3023Ala
XM_017011650.2:c.8995A>G (AKAP9)	XP_016867139.1:p.Thr2999Ala
XM_017011651.2:c.8989A>G (AKAP9)	XP_016867140.1:p.Thr2997Ala
XM_017011652.2:c.9130A>G (AKAP9)	XP_016867141.1:p.Thr3044Ala
XM_017011653.2:c.8902A>G (AKAP9)	XP_016867142.1:p.Thr2968Ala
XM_017011654.2:c.8854A>G (AKAP9)	XP_016867143.1:p.Thr2952Ala
XM_017011655.2:c.8758A>G (AKAP9)	XP_016867144.1:p.Thr2920Ala
XM_017011656.2:c.8758A>G (AKAP9)	XP_016867145.1:p.Thr2920Ala
XM_017011657.2:c.4795A>G (AKAP9)	XP_016867146.1:p.Thr1599Ala
XM_017011658.2:c.3679A>G (AKAP9)	XP_016867147.1:p.Thr1227Ala
XM_017011659.2:c.3640A>G (AKAP9)	XP_016867148.1:p.Thr1214Ala
XM_017011660.2:c.3640A>G (AKAP9)	XP_016867149.1:p.Thr1214Ala
XM_024446631.1:c.8893A>G (AKAP9)	XP_024302399.1:p.Thr2965Ala
NM_147185.3:c.8971A>G (AKAP9)	NP_671714.1:p.Thr2991Ala
NM_001379277.1:c.3640A>G (AKAP9)	NP_001366206.1:p.Thr1214Ala
NM_005751.5:c.8995A>G (AKAP9) MANE Select	NP_005742.4:p.Thr2999Ala