Canonical Allele Identifier: CA406494991

Gene: FKRP

Linked Data

• ClinVar Variation Id: 597390
• ClinVar RCV Id: RCV000733489
• dbSNP Id: rs1057520771
• gnomAD v3: 19-46755714-C-G
• gnomAD v4: 19-46755714-C-G
• MyVariant Identifiers: chr19:g.47258971C>G (hg19) ; chr19:g.46755714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755714C>G , CM000681.2:g.46755714C>G	GRCh38
NC_000019.9:g.47258971C>G , CM000681.1:g.47258971C>G	GRCh37
NC_000019.8:g.51950811C>G	NCBI36
NG_008898.2:g.14669C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318584.10:c.264C>G MANE Select	ENSP00000326570.4:p.Tyr88Ter
ENST00000318584.9:c.264C>G	ENSP00000326570.4:p.Tyr88Ter
ENST00000391909.7:c.264C>G	ENSP00000375776.2:p.Tyr88Ter
ENST00000593800.5:c.264C>G	ENSP00000471209.1:p.Tyr88Ter
ENST00000593902.1:c.264C>G	ENSP00000470901.1:p.Tyr88Ter
ENST00000594467.5:c.-166C>G	ENSP00000471971.1:n.-166C>G
ENST00000596974.5:n.490C>G
ENST00000597339.5:n.247-6119C>G
ENST00000600005.5:c.264C>G	ENSP00000470335.1:p.Tyr88Ter
ENST00000600227.5:c.264C>G	ENSP00000468825.1:p.Tyr88Ter
ENST00000600646.5:n.247+7049C>G
ENST00000601299.5:c.264C>G	ENSP00000470103.1:p.Tyr88Ter
ENST00000602181.5:c.264C>G	ENSP00000472981.1:p.Tyr88Ter
NM_001039885.2:c.264C>G	NP_001034974.1:p.Tyr88Ter
NM_024301.4:c.264C>G	NP_077277.1:p.Tyr88Ter
XM_005259247.1:c.264C>G	XP_005259304.1:p.Tyr88Ter
XM_005259248.1:c.264C>G	XP_005259305.1:p.Tyr88Ter
XM_005259249.3:c.264C>G	XP_005259306.1:p.Tyr88Ter
XM_005259250.3:c.264C>G	XP_005259307.1:p.Tyr88Ter
XM_011527301.1:c.264C>G	XP_011525603.1:p.Tyr88Ter
XM_011527302.1:c.264C>G	XP_011525604.1:p.Tyr88Ter
XM_011527303.1:c.264C>G	XP_011525605.1:p.Tyr88Ter
XM_011527304.1:c.264C>G	XP_011525606.1:p.Tyr88Ter
XM_011527305.1:c.264C>G	XP_011525607.1:p.Tyr88Ter
XM_011527306.1:c.264C>G	XP_011525608.1:p.Tyr88Ter
XM_011527307.1:c.264C>G	XP_011525609.1:p.Tyr88Ter
XM_005259247.2:c.264C>G	XP_005259304.1:p.Tyr88Ter
XM_005259248.2:c.264C>G	XP_005259305.1:p.Tyr88Ter
XM_005259249.4:c.264C>G	XP_005259306.1:p.Tyr88Ter
XM_011527306.2:c.264C>G	XP_011525608.1:p.Tyr88Ter
XM_017027297.2:c.264C>G	XP_016882786.1:p.Tyr88Ter
XM_024451707.1:c.264C>G	XP_024307475.1:p.Tyr88Ter
NM_001039885.3:c.264C>G	NP_001034974.1:p.Tyr88Ter
NM_024301.5:c.264C>G MANE Select	NP_077277.1:p.Tyr88Ter