Canonical Allele Identifier: CA5503732

Gene: PRKG1

Linked Data

• ClinVar Variation Id: 544055
• ClinVar RCV Id: RCV000655071 ; RCV001579781
• dbSNP Id: rs775720873
• ExAC: 10:53921663 T / C
• gnomAD v2: 10-53921663-T-C
• gnomAD v3: 10-52161903-T-C
• gnomAD v4: 10-52161903-T-C
• MyVariant Identifiers: chr10:g.53921663T>C (hg19) ; chr10:g.52161903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52161903T>C , CM000672.2:g.52161903T>C	GRCh38
NC_000010.10:g.53921663T>C , CM000672.1:g.53921663T>C	GRCh37
NC_000010.9:g.53591669T>C	NCBI36
NG_029982.1:g.1175753T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373975.3:n.375T>C
ENST00000373980.11:c.1016T>C MANE Select	ENSP00000363092.5:p.Leu339Ser
ENST00000401604.8:c.971T>C	ENSP00000384200.4:p.Leu324Ser
ENST00000646354.1:n.855T>C
ENST00000672084.1:c.167T>C	ENSP00000499822.1:p.Leu56Ser
ENST00000373975.2:n.465T>C
ENST00000373980.8:c.1016T>C	ENSP00000363092.4:p.Leu339Ser
ENST00000373985.5:c.971T>C	ENSP00000363097.2:p.Leu324Ser
ENST00000401604.6:c.335T>C	ENSP00000384200.3:p.Leu112Ser
NM_001098512.2:c.971T>C	NP_001091982.1:p.Leu324Ser
NM_006258.3:c.1016T>C	NP_006249.1:p.Leu339Ser
XM_005269972.3:c.167T>C	XP_005270029.1:p.Leu56Ser
XM_011539952.1:c.1016T>C	XP_011538254.1:p.Leu339Ser
NM_001098512.3:c.971T>C	NP_001091982.1:p.Leu324Ser
NM_006258.4:c.1016T>C MANE Select	NP_006249.1:p.Leu339Ser
XM_011539952.2:c.1016T>C	XP_011538254.1:p.Leu339Ser
XM_017016412.1:c.731T>C	XP_016871901.1:p.Leu244Ser
XM_017016413.1:c.713T>C	XP_016871902.1:p.Leu238Ser
XM_024448078.1:c.-194T>C	XP_024303846.1:n.-194T>C
NM_001374781.1:c.-194T>C	NP_001361710.1:n.-194T>C