Canonical Allele Identifier: CA358945530

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287723T>C , CM000666.2:g.186287723T>C GRCh38
NC_000004.11:g.187208877T>C , CM000666.1:g.187208877T>C GRCh37
NC_000004.10:g.187445871T>C NCBI36
NG_008051.1:g.26760T>C , LRG_583:g.26760T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1616T>C (F11) MANE Select ENSP00000384957.2:p.Leu539Ser
ENST00000264691.4:c.216T>C (F11)
ENST00000264692.8:c.1454T>C (F11) ENSP00000264692.5:p.Leu485Ser
ENST00000403665.6:c.1616T>C (F11) ENSP00000384957.2:p.Leu539Ser
ENST00000503841.1:n.135T>C (F11)
NM_000128.3:c.1616T>C , LRG_583t1:c.1616T>C (F11) NP_000119.1:p.Leu539Ser
NR_033900.1:n.1066+705A>G (F11-AS1)
XM_005262821.2:c.1619T>C (F11) XP_005262878.1:p.Leu540Ser
XM_005262822.2:c.1523T>C (F11) XP_005262879.1:p.Leu508Ser
XM_005262823.2:c.1349T>C (F11) XP_005262880.1:p.Leu450Ser
XM_006714137.1:c.1571T>C (F11) XP_006714200.1:p.Leu524Ser
XR_938707.1:n.1928T>C (F11)
XM_005262821.4:c.1619T>C (F11) XP_005262878.1:p.Leu540Ser
XM_005262822.4:c.1523T>C (F11) XP_005262879.1:p.Leu508Ser
XM_005262823.4:c.1349T>C (F11) XP_005262880.1:p.Leu450Ser
XM_006714137.3:c.1571T>C (F11) XP_006714200.1:p.Leu524Ser
NM_000128.4:c.1616T>C (F11) MANE Select NP_000119.1:p.Leu539Ser