Canonical Allele Identifier: CA398726173

Gene: AKAP10

Linked Data

• dbSNP Id: rs1597485924
• gnomAD v4: 17-19909246-T-C
• MyVariant Identifiers: chr17:g.19812559T>C (hg19) ; chr17:g.19909246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19909246T>C , CM000679.2:g.19909246T>C	GRCh38
NC_000017.10:g.19812559T>C , CM000679.1:g.19812559T>C	GRCh37
NC_000017.9:g.19753151T>C	NCBI36
NG_011493.1:g.73571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225737.11:c.1918A>G MANE Select	ENSP00000225737.6:p.Lys640Glu
ENST00000225737.10:c.1918A>G	ENSP00000225737.6:p.Lys640Glu
ENST00000395536.7:c.1744A>G	ENSP00000378907.3:p.Lys582Glu
ENST00000578898.1:c.345A>G
ENST00000583951.1:c.229A>G	ENSP00000463398.1:p.Lys77Glu
NM_007202.3:c.1918A>G	NP_009133.2:p.Lys640Glu
XM_006721431.2:c.1835-3014A>G	XP_006721494.1:n.1835-3014A>G
XM_006721432.2:c.1744A>G	XP_006721495.1:p.Lys582Glu
XR_933969.1:n.1966A>G
XR_933970.1:n.1883-3014A>G
NM_001330152.1:c.1744A>G	NP_001317081.1:p.Lys582Glu
XR_001752418.2:n.2030A>G
XR_933969.3:n.1949A>G
NM_007202.4:c.1918A>G MANE Select	NP_009133.2:p.Lys640Glu
NM_001330152.2:c.1744A>G	NP_001317081.1:p.Lys582Glu