Canonical Allele Identifier: CA4337691

Gene: CYP51A1 AKAP9

Linked Data

• ClinVar Variation Id: 360843
• ClinVar RCV Id: RCV000299936 ; RCV000357166 ; RCV000506297
• dbSNP Id: rs377532409
• ExAC: 7:91718693 T / C
• gnomAD v2: 7-91718693-T-C
• gnomAD v3: 7-92089379-T-C
• gnomAD v4: 7-92089379-T-C
• MyVariant Identifiers: chr7:g.91718693T>C (hg19) ; chr7:g.92089379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92089379T>C , CM000669.2:g.92089379T>C	GRCh38
NC_000007.13:g.91718693T>C , CM000669.1:g.91718693T>C	GRCh37
NC_000007.12:g.91556629T>C	NCBI36
NG_011623.1:g.153505T>C , LRG_331:g.153505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691309.1:c.1352-3777A>G (CYP51A1)	ENSP00000510368.1:n.1352-3777A>G
ENST00000356239.8:c.9214-6T>C (AKAP9) MANE Select	ENSP00000348573.3:n.9214-6T>C
ENST00000359028.7:c.9286-6T>C (AKAP9)	ENSP00000351922.4:n.9286-6T>C
ENST00000394534.7:c.2707-6T>C (AKAP9)	ENSP00000378042.3:n.2707-6T>C
ENST00000435423.2:n.1054-6T>C (AKAP9)
ENST00000491695.2:c.3859-6T>C (AKAP9)	ENSP00000494626.2:n.3859-6T>C
ENST00000679448.1:c.9190-6T>C (AKAP9)	ENSP00000505889.1:n.9190-6T>C
ENST00000679457.1:c.9190-6T>C (AKAP9)	ENSP00000505450.1:n.9190-6T>C
ENST00000679474.1:n.9412-6T>C (AKAP9)
ENST00000679521.1:c.9160-6T>C (AKAP9)	ENSP00000505456.1:n.9160-6T>C
ENST00000679821.1:c.8956-6T>C (AKAP9)	ENSP00000506040.1:n.8956-6T>C
ENST00000680047.1:n.9412-6T>C (AKAP9)
ENST00000680072.1:c.9037-6T>C (AKAP9)	ENSP00000506581.1:n.9037-6T>C
ENST00000680181.1:c.9121-6T>C (AKAP9)	ENSP00000505548.1:n.9121-6T>C
ENST00000680365.1:c.2707-6T>C (AKAP9)	ENSP00000506019.1:n.2707-6T>C
ENST00000680513.1:c.9073-6T>C (AKAP9)	ENSP00000505284.1:n.9073-6T>C
ENST00000680534.1:c.9253-6T>C (AKAP9)	ENSP00000506674.1:n.9253-6T>C
ENST00000680766.1:c.9190-6T>C (AKAP9)	ENSP00000505204.1:n.9190-6T>C
ENST00000680952.1:c.9190-6T>C (AKAP9)	ENSP00000506407.1:n.9190-6T>C
ENST00000681216.1:c.2551-6T>C (AKAP9)	ENSP00000505551.1:n.2551-6T>C
ENST00000681412.1:c.9214-6T>C (AKAP9)	ENSP00000506486.1:n.9214-6T>C
ENST00000681722.1:c.9190-6T>C (AKAP9)	ENSP00000506566.1:n.9190-6T>C
ENST00000356239.7:c.9214-6T>C (AKAP9)	ENSP00000348573.3:n.9214-6T>C
ENST00000358100.6:c.9073-6T>C (AKAP9)	ENSP00000350813.3:n.9073-6T>C
ENST00000359028.6:c.9223-6T>C (AKAP9)	ENSP00000351922.3:n.9223-6T>C
ENST00000394534.6:c.2752-6T>C (AKAP9)	ENSP00000378042.2:n.2752-6T>C
ENST00000435423.1:c.648-6T>C (AKAP9)
NM_005751.4:c.9214-6T>C , LRG_331t1:c.9214-6T>C (AKAP9)	NP_005742.4:n.9214-6T>C
NM_147185.2:c.9190-6T>C (AKAP9)	NP_671714.1:n.9190-6T>C
XM_006715827.1:c.9073-6T>C (AKAP9)	XP_006715890.1:n.9073-6T>C
XM_011515709.1:c.9361-6T>C (AKAP9)	XP_011514011.1:n.9361-6T>C
XM_011515710.1:c.9385-6T>C (AKAP9)	XP_011514012.1:n.9385-6T>C
XM_011515711.1:c.9325-6T>C (AKAP9)	XP_011514013.1:n.9325-6T>C
XM_011515712.1:c.9322-6T>C (AKAP9)	XP_011514014.1:n.9322-6T>C
XM_011515713.1:c.9307-6T>C (AKAP9)	XP_011514015.1:n.9307-6T>C
XM_011515714.1:c.9346-6T>C (AKAP9)	XP_011514016.1:n.9346-6T>C
XM_011515716.1:c.9265-6T>C (AKAP9)	XP_011514018.1:n.9265-6T>C
XM_011515717.1:c.9220-6T>C (AKAP9)	XP_011514019.1:n.9220-6T>C
XM_011515718.1:c.9250-6T>C (AKAP9)	XP_011514020.1:n.9250-6T>C
XM_011515719.1:c.9226-6T>C (AKAP9)	XP_011514021.1:n.9226-6T>C
XM_011515720.1:c.9109-6T>C (AKAP9)	XP_011514022.1:n.9109-6T>C
XM_011515721.1:c.3874-6T>C (AKAP9)	XP_011514023.1:n.3874-6T>C
XM_011515722.1:c.3835-6T>C (AKAP9)	XP_011514024.1:n.3835-6T>C
XM_017011642.2:c.9349-6T>C (AKAP9)	XP_016867131.1:n.9349-6T>C
XM_017011643.2:c.9310-6T>C (AKAP9)	XP_016867132.1:n.9310-6T>C
XM_017011644.2:c.9349-6T>C (AKAP9)	XP_016867133.1:n.9349-6T>C
XM_017011645.2:c.9295-6T>C (AKAP9)	XP_016867134.1:n.9295-6T>C
XM_017011646.2:c.9310-6T>C (AKAP9)	XP_016867135.1:n.9310-6T>C
XM_017011647.2:c.9256-6T>C (AKAP9)	XP_016867136.1:n.9256-6T>C
XM_017011648.2:c.9253-6T>C (AKAP9)	XP_016867137.1:n.9253-6T>C
XM_017011649.2:c.9286-6T>C (AKAP9)	XP_016867138.1:n.9286-6T>C
XM_017011650.2:c.9214-6T>C (AKAP9)	XP_016867139.1:n.9214-6T>C
XM_017011651.2:c.9208-6T>C (AKAP9)	XP_016867140.1:n.9208-6T>C
XM_017011652.2:c.9160-6T>C (AKAP9)	XP_016867141.1:n.9160-6T>C
XM_017011653.2:c.9121-6T>C (AKAP9)	XP_016867142.1:n.9121-6T>C
XM_017011654.2:c.9073-6T>C (AKAP9)	XP_016867143.1:n.9073-6T>C
XM_017011655.2:c.8977-6T>C (AKAP9)	XP_016867144.1:n.8977-6T>C
XM_017011656.2:c.8977-6T>C (AKAP9)	XP_016867145.1:n.8977-6T>C
XM_017011657.2:c.5014-6T>C (AKAP9)	XP_016867146.1:n.5014-6T>C
XM_017011658.2:c.3898-6T>C (AKAP9)	XP_016867147.1:n.3898-6T>C
XM_017011659.2:c.3859-6T>C (AKAP9)	XP_016867148.1:n.3859-6T>C
XM_017011660.2:c.3859-6T>C (AKAP9)	XP_016867149.1:n.3859-6T>C
XM_024446631.1:c.9112-6T>C (AKAP9)	XP_024302399.1:n.9112-6T>C
NM_147185.3:c.9190-6T>C (AKAP9)	NP_671714.1:n.9190-6T>C
NM_001379277.1:c.3859-6T>C (AKAP9)	NP_001366206.1:n.3859-6T>C
NM_005751.5:c.9214-6T>C (AKAP9) MANE Select	NP_005742.4:n.9214-6T>C