Canonical Allele Identifier: CA8445638

Gene: AKAP10

Linked Data

• dbSNP Id: rs774962900
• ExAC: 17:19812506 C / G
• gnomAD v2: 17-19812506-C-G
• gnomAD v4: 17-19909193-C-G
• COSMIC: COSM5553665
• MyVariant Identifiers: chr17:g.19812506C>G (hg19) ; chr17:g.19909193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19909193C>G , CM000679.2:g.19909193C>G	GRCh38
NC_000017.10:g.19812506C>G , CM000679.1:g.19812506C>G	GRCh37
NC_000017.9:g.19753098C>G	NCBI36
NG_011493.1:g.73624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225737.11:c.1971G>C MANE Select	ENSP00000225737.6:p.Glu657Asp
ENST00000225737.10:c.1971G>C	ENSP00000225737.6:p.Glu657Asp
ENST00000395536.7:c.1797G>C	ENSP00000378907.3:p.Glu599Asp
ENST00000578898.1:c.398G>C
NM_007202.3:c.1971G>C	NP_009133.2:p.Glu657Asp
XM_006721431.2:c.1835-2961G>C	XP_006721494.1:n.1835-2961G>C
XM_006721432.2:c.1797G>C	XP_006721495.1:p.Glu599Asp
XR_933969.1:n.2019G>C
XR_933970.1:n.1883-2961G>C
NM_001330152.1:c.1797G>C	NP_001317081.1:p.Glu599Asp
XR_001752418.2:n.2083G>C
XR_933969.3:n.2002G>C
NM_007202.4:c.1971G>C MANE Select	NP_009133.2:p.Glu657Asp
NM_001330152.2:c.1797G>C	NP_001317081.1:p.Glu599Asp