Canonical Allele Identifier: CA358945528

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287722T>G , CM000666.2:g.186287722T>G GRCh38
NC_000004.11:g.187208876T>G , CM000666.1:g.187208876T>G GRCh37
NC_000004.10:g.187445870T>G NCBI36
NG_008051.1:g.26759T>G , LRG_583:g.26759T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1615T>G (F11) MANE Select ENSP00000384957.2:p.Leu539Val
ENST00000264691.4:c.215T>G (F11)
ENST00000264692.8:c.1453T>G (F11) ENSP00000264692.5:p.Leu485Val
ENST00000403665.6:c.1615T>G (F11) ENSP00000384957.2:p.Leu539Val
ENST00000503841.1:n.134T>G (F11)
NM_000128.3:c.1615T>G , LRG_583t1:c.1615T>G (F11) NP_000119.1:p.Leu539Val
NR_033900.1:n.1066+706A>C (F11-AS1)
XM_005262821.2:c.1618T>G (F11) XP_005262878.1:p.Leu540Val
XM_005262822.2:c.1522T>G (F11) XP_005262879.1:p.Leu508Val
XM_005262823.2:c.1348T>G (F11) XP_005262880.1:p.Leu450Val
XM_006714137.1:c.1570T>G (F11) XP_006714200.1:p.Leu524Val
XR_938707.1:n.1927T>G (F11)
XM_005262821.4:c.1618T>G (F11) XP_005262878.1:p.Leu540Val
XM_005262822.4:c.1522T>G (F11) XP_005262879.1:p.Leu508Val
XM_005262823.4:c.1348T>G (F11) XP_005262880.1:p.Leu450Val
XM_006714137.3:c.1570T>G (F11) XP_006714200.1:p.Leu524Val
NM_000128.4:c.1615T>G (F11) MANE Select NP_000119.1:p.Leu539Val