Canonical Allele Identifier: CA116699
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4220
dbSNP Id: rs104894681

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756793C>T , CM000681.2:g.46756793C>T GRCh38
NC_000019.9:g.47260050C>T , CM000681.1:g.47260050C>T GRCh37
NC_000019.8:g.51951890C>T NCBI36
NG_008898.2:g.15748C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318584.10:c.1343C>T MANE Select ENSP00000326570.4:p.Pro448Leu
ENST00000318584.9:c.1343C>T ENSP00000326570.4:p.Pro448Leu
ENST00000391909.7:c.1343C>T ENSP00000375776.2:p.Pro448Leu
ENST00000597339.5:n.247-5040C>T
ENST00000600646.5:n.247+8128C>T
NM_001039885.2:c.1343C>T NP_001034974.1:p.Pro448Leu
NM_024301.4:c.1343C>T NP_077277.1:p.Pro448Leu
XM_005259247.1:c.1343C>T XP_005259304.1:p.Pro448Leu
XM_005259248.1:c.1343C>T XP_005259305.1:p.Pro448Leu
XM_005259249.3:c.1343C>T XP_005259306.1:p.Pro448Leu
XM_005259250.3:c.1343C>T XP_005259307.1:p.Pro448Leu
XM_011527301.1:c.1343C>T XP_011525603.1:p.Pro448Leu
XM_011527302.1:c.1343C>T XP_011525604.1:p.Pro448Leu
XM_011527303.1:c.1343C>T XP_011525605.1:p.Pro448Leu
XM_011527304.1:c.1343C>T XP_011525606.1:p.Pro448Leu
XM_011527305.1:c.1343C>T XP_011525607.1:p.Pro448Leu
XM_011527306.1:c.1343C>T XP_011525608.1:p.Pro448Leu
XM_011527307.1:c.1343C>T XP_011525609.1:p.Pro448Leu
XM_005259247.2:c.1343C>T XP_005259304.1:p.Pro448Leu
XM_005259248.2:c.1343C>T XP_005259305.1:p.Pro448Leu
XM_005259249.4:c.1343C>T XP_005259306.1:p.Pro448Leu
XM_011527306.2:c.1343C>T XP_011525608.1:p.Pro448Leu
XM_017027297.2:c.1343C>T XP_016882786.1:p.Pro448Leu
XM_024451707.1:c.1343C>T XP_024307475.1:p.Pro448Leu
NM_001039885.3:c.1343C>T NP_001034974.1:p.Pro448Leu
NM_024301.5:c.1343C>T MANE Select NP_077277.1:p.Pro448Leu