Canonical Allele Identifier: CA358944146

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286465T>A , CM000666.2:g.186286465T>A GRCh38
NC_000004.11:g.187207619T>A , CM000666.1:g.187207619T>A GRCh37
NC_000004.10:g.187444613T>A NCBI36
NG_008051.1:g.25502T>A , LRG_583:g.25502T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1531T>A (F11) MANE Select ENSP00000384957.2:p.Tyr511Asn
ENST00000264691.4:c.176+652T>A (F11)
ENST00000264692.8:c.1369T>A (F11) ENSP00000264692.5:p.Tyr457Asn
ENST00000403665.6:c.1531T>A (F11) ENSP00000384957.2:p.Tyr511Asn
NM_000128.3:c.1531T>A , LRG_583t1:c.1531T>A (F11) NP_000119.1:p.Tyr511Asn
NR_033900.1:n.1067-199A>T (F11-AS1)
XM_005262821.2:c.1534T>A (F11) XP_005262878.1:p.Tyr512Asn
XM_005262822.2:c.1483+652T>A (F11) XP_005262879.1:n.1483+652T>A
XM_005262823.2:c.1264T>A (F11) XP_005262880.1:p.Tyr422Asn
XM_005262824.1:c.1484-81T>A (F11) XP_005262881.1:n.1484-81T>A
XM_006714137.1:c.1486T>A (F11) XP_006714200.1:p.Tyr496Asn
XR_938706.1:n.1939T>A (F11)
XR_938707.1:n.1888+652T>A (F11)
XM_005262821.4:c.1534T>A (F11) XP_005262878.1:p.Tyr512Asn
XM_005262822.4:c.1483+652T>A (F11) XP_005262879.1:n.1483+652T>A
XM_005262823.4:c.1264T>A (F11) XP_005262880.1:p.Tyr422Asn
XM_006714137.3:c.1486T>A (F11) XP_006714200.1:p.Tyr496Asn
XR_001741172.2:n.2005T>A (F11)
NM_000128.4:c.1531T>A (F11) MANE Select NP_000119.1:p.Tyr511Asn