Canonical Allele Identifier: CA4337770

Gene: CYP51A1 AKAP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92093206T>G , CM000669.2:g.92093206T>G	GRCh38
NC_000007.13:g.91722520T>G , CM000669.1:g.91722520T>G	GRCh37
NC_000007.12:g.91560456T>G	NCBI36
NG_011623.1:g.157332T>G , LRG_331:g.157332T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005751.5:c.9468T>G (AKAP9) MANE Select	NP_005742.4:p.Ser3156=
ENST00000356239.8:c.9468T>G (AKAP9) MANE Select	ENSP00000348573.3:p.Ser3156=
NM_001379277.1:c.4113T>G (AKAP9)	NP_001366206.1:p.Ser1371=
NM_005751.4:c.9468T>G , LRG_331t1:c.9468T>G (AKAP9)	NP_005742.4:p.Ser3156=
NM_147185.2:c.9444T>G (AKAP9)	NP_671714.1:p.Ser3148=
NM_147185.3:c.9444T>G (AKAP9)	NP_671714.1:p.Ser3148=
ENST00000356239.7:c.9468T>G (AKAP9)	ENSP00000348573.3:p.Ser3156=
ENST00000359028.6:c.9477T>G (AKAP9)	ENSP00000351922.3:p.Ser3159=
ENST00000359028.7:c.9540T>G (AKAP9)	ENSP00000351922.4:p.Ser3180=
ENST00000394534.6:c.3006T>G (AKAP9)	ENSP00000378042.2:p.Ser1002=
ENST00000394534.7:c.2961T>G (AKAP9)	ENSP00000378042.3:p.Ser987=
ENST00000487258.5:n.1218T>G (AKAP9)
ENST00000487692.2:n.1546T>G (AKAP9)
ENST00000491695.2:c.4113T>G (AKAP9)	ENSP00000494626.2:p.Ser1371=
ENST00000679448.1:c.*348T>G (AKAP9)	ENSP00000505889.1:n.*348T>G
ENST00000679457.1:c.9444T>G (AKAP9)	ENSP00000505450.1:p.Ser3148=
ENST00000679474.1:n.9666T>G (AKAP9)
ENST00000679521.1:c.9414T>G (AKAP9)	ENSP00000505456.1:p.Ser3138=
ENST00000679821.1:c.9210T>G (AKAP9)	ENSP00000506040.1:p.Ser3070=
ENST00000680047.1:n.9666T>G (AKAP9)
ENST00000680072.1:c.9291T>G (AKAP9)	ENSP00000506581.1:p.Ser3097=
ENST00000680181.1:c.9375T>G (AKAP9)	ENSP00000505548.1:p.Ser3125=
ENST00000680365.1:c.2961T>G (AKAP9)	ENSP00000506019.1:p.Ser987=
ENST00000680513.1:c.9327T>G (AKAP9)	ENSP00000505284.1:p.Ser3109=
ENST00000680534.1:c.9507T>G (AKAP9)	ENSP00000506674.1:p.Ser3169=
ENST00000680766.1:c.9444T>G (AKAP9)	ENSP00000505204.1:p.Ser3148=
ENST00000680952.1:c.9444T>G (AKAP9)	ENSP00000506407.1:p.Ser3148=
ENST00000681216.1:c.3228T>G (AKAP9)	ENSP00000505551.1:n.3228T>G
ENST00000681412.1:c.9468T>G (AKAP9)	ENSP00000506486.1:p.Ser3156=
ENST00000681722.1:c.9444T>G (AKAP9)	ENSP00000506566.1:p.Ser3148=
ENST00000691309.1:c.1352-7604A>C (CYP51A1)	ENSP00000510368.1:n.1352-7604A>C
XM_006715827.1:c.9327T>G (AKAP9)	XP_006715890.1:p.Ser3109=
XM_011515709.1:c.9615T>G (AKAP9)	XP_011514011.1:p.Ser3205=
XM_011515710.1:c.9639T>G (AKAP9)	XP_011514012.1:p.Ser3213=
XM_011515711.1:c.9579T>G (AKAP9)	XP_011514013.1:p.Ser3193=
XM_011515712.1:c.9576T>G (AKAP9)	XP_011514014.1:p.Ser3192=
XM_011515713.1:c.9561T>G (AKAP9)	XP_011514015.1:p.Ser3187=
XM_011515714.1:c.9600T>G (AKAP9)	XP_011514016.1:p.Ser3200=
XM_011515716.1:c.9519T>G (AKAP9)	XP_011514018.1:p.Ser3173=
XM_011515717.1:c.9474T>G (AKAP9)	XP_011514019.1:p.Ser3158=
XM_011515718.1:c.9504T>G (AKAP9)	XP_011514020.1:p.Ser3168=
XM_011515719.1:c.9480T>G (AKAP9)	XP_011514021.1:p.Ser3160=
XM_011515721.1:c.4128T>G (AKAP9)	XP_011514023.1:p.Ser1376=
XM_011515722.1:c.4089T>G (AKAP9)	XP_011514024.1:p.Ser1363=
XM_017011642.2:c.9603T>G (AKAP9)	XP_016867131.1:p.Ser3201=
XM_017011643.2:c.9564T>G (AKAP9)	XP_016867132.1:p.Ser3188=
XM_017011644.2:c.9603T>G (AKAP9)	XP_016867133.1:p.Ser3201=
XM_017011645.2:c.9549T>G (AKAP9)	XP_016867134.1:p.Ser3183=
XM_017011646.2:c.9564T>G (AKAP9)	XP_016867135.1:p.Ser3188=
XM_017011647.2:c.9510T>G (AKAP9)	XP_016867136.1:p.Ser3170=
XM_017011648.2:c.9507T>G (AKAP9)	XP_016867137.1:p.Ser3169=
XM_017011649.2:c.9540T>G (AKAP9)	XP_016867138.1:p.Ser3180=
XM_017011650.2:c.9468T>G (AKAP9)	XP_016867139.1:p.Ser3156=
XM_017011651.2:c.9462T>G (AKAP9)	XP_016867140.1:p.Ser3154=
XM_017011652.2:c.9414T>G (AKAP9)	XP_016867141.1:p.Ser3138=
XM_017011653.2:c.9375T>G (AKAP9)	XP_016867142.1:p.Ser3125=
XM_017011654.2:c.9327T>G (AKAP9)	XP_016867143.1:p.Ser3109=
XM_017011655.2:c.9231T>G (AKAP9)	XP_016867144.1:p.Ser3077=
XM_017011656.2:c.9231T>G (AKAP9)	XP_016867145.1:p.Ser3077=
XM_017011657.2:c.5268T>G (AKAP9)	XP_016867146.1:p.Ser1756=
XM_017011658.2:c.4152T>G (AKAP9)	XP_016867147.1:p.Ser1384=
XM_017011659.2:c.4113T>G (AKAP9)	XP_016867148.1:p.Ser1371=
XM_017011660.2:c.4113T>G (AKAP9)	XP_016867149.1:p.Ser1371=
XM_024446631.1:c.9366T>G (AKAP9)	XP_024302399.1:p.Ser3122=