Canonical Allele Identifier: CA149248
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 96108
dbSNP Id: rs143793528

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46755791C>G , CM000681.2:g.46755791C>G GRCh38
NC_000019.9:g.47259048C>G , CM000681.1:g.47259048C>G GRCh37
NC_000019.8:g.51950888C>G NCBI36
NG_008898.2:g.14746C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318584.10:c.341C>G MANE Select ENSP00000326570.4:p.Ala114Gly
ENST00000318584.9:c.341C>G ENSP00000326570.4:p.Ala114Gly
ENST00000391909.7:c.341C>G ENSP00000375776.2:p.Ala114Gly
ENST00000593902.1:c.341C>G ENSP00000470901.1:p.Ala114Gly
ENST00000594467.5:c.-89C>G ENSP00000471971.1:n.-89C>G
ENST00000596974.5:n.567C>G
ENST00000597339.5:n.247-6042C>G
ENST00000600005.5:c.341C>G ENSP00000470335.1:p.Ala114Gly
ENST00000600646.5:n.247+7126C>G
ENST00000601299.5:c.341C>G ENSP00000470103.1:p.Ala114Gly
NM_001039885.2:c.341C>G NP_001034974.1:p.Ala114Gly
NM_024301.4:c.341C>G NP_077277.1:p.Ala114Gly
XM_005259247.1:c.341C>G XP_005259304.1:p.Ala114Gly
XM_005259248.1:c.341C>G XP_005259305.1:p.Ala114Gly
XM_005259249.3:c.341C>G XP_005259306.1:p.Ala114Gly
XM_005259250.3:c.341C>G XP_005259307.1:p.Ala114Gly
XM_011527301.1:c.341C>G XP_011525603.1:p.Ala114Gly
XM_011527302.1:c.341C>G XP_011525604.1:p.Ala114Gly
XM_011527303.1:c.341C>G XP_011525605.1:p.Ala114Gly
XM_011527304.1:c.341C>G XP_011525606.1:p.Ala114Gly
XM_011527305.1:c.341C>G XP_011525607.1:p.Ala114Gly
XM_011527306.1:c.341C>G XP_011525608.1:p.Ala114Gly
XM_011527307.1:c.341C>G XP_011525609.1:p.Ala114Gly
XM_005259247.2:c.341C>G XP_005259304.1:p.Ala114Gly
XM_005259248.2:c.341C>G XP_005259305.1:p.Ala114Gly
XM_005259249.4:c.341C>G XP_005259306.1:p.Ala114Gly
XM_011527306.2:c.341C>G XP_011525608.1:p.Ala114Gly
XM_017027297.2:c.341C>G XP_016882786.1:p.Ala114Gly
XM_024451707.1:c.341C>G XP_024307475.1:p.Ala114Gly
NM_001039885.3:c.341C>G NP_001034974.1:p.Ala114Gly
NM_024301.5:c.341C>G MANE Select NP_077277.1:p.Ala114Gly