Canonical Allele Identifier: CA358945885

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288474T>G , CM000666.2:g.186288474T>G GRCh38
NC_000004.11:g.187209628T>G , CM000666.1:g.187209628T>G GRCh37
NC_000004.10:g.187446622T>G NCBI36
NG_008051.1:g.27511T>G , LRG_583:g.27511T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1738T>G (F11) MANE Select ENSP00000384957.2:p.Ser580Ala
ENST00000264691.4:c.338T>G (F11)
ENST00000264692.8:c.1576T>G (F11) ENSP00000264692.5:p.Ser526Ala
ENST00000403665.6:c.1738T>G (F11) ENSP00000384957.2:p.Ser580Ala
ENST00000503841.1:n.257T>G (F11)
NM_000128.3:c.1738T>G , LRG_583t1:c.1738T>G (F11) NP_000119.1:p.Ser580Ala
NR_033900.1:n.1020A>C (F11-AS1)
XM_005262821.2:c.1741T>G (F11) XP_005262878.1:p.Ser581Ala
XM_005262822.2:c.1645T>G (F11) XP_005262879.1:p.Ser549Ala
XM_005262823.2:c.1471T>G (F11) XP_005262880.1:p.Ser491Ala
XM_006714137.1:c.1693T>G (F11) XP_006714200.1:p.Ser565Ala
XM_005262821.4:c.1741T>G (F11) XP_005262878.1:p.Ser581Ala
XM_005262822.4:c.1645T>G (F11) XP_005262879.1:p.Ser549Ala
XM_005262823.4:c.1471T>G (F11) XP_005262880.1:p.Ser491Ala
XM_006714137.3:c.1693T>G (F11) XP_006714200.1:p.Ser565Ala
NM_000128.4:c.1738T>G (F11) MANE Select NP_000119.1:p.Ser580Ala