Canonical Allele Identifier: CA3164053

Linked Data

dbSNP Id: rs772771025

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287702T>C , CM000666.2:g.186287702T>C GRCh38
NC_000004.11:g.187208856T>C , CM000666.1:g.187208856T>C GRCh37
NC_000004.10:g.187445850T>C NCBI36
NG_008051.1:g.26739T>C , LRG_583:g.26739T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1595T>C (F11) MANE Select ENSP00000384957.2:p.Leu532Pro
ENST00000264691.4:c.195T>C (F11)
ENST00000264692.8:c.1433T>C (F11) ENSP00000264692.5:p.Leu478Pro
ENST00000403665.6:c.1595T>C (F11) ENSP00000384957.2:p.Leu532Pro
ENST00000503841.1:n.114T>C (F11)
NM_000128.3:c.1595T>C , LRG_583t1:c.1595T>C (F11) NP_000119.1:p.Leu532Pro
NR_033900.1:n.1066+726A>G (F11-AS1)
XM_005262821.2:c.1598T>C (F11) XP_005262878.1:p.Leu533Pro
XM_005262822.2:c.1502T>C (F11) XP_005262879.1:p.Leu501Pro
XM_005262823.2:c.1328T>C (F11) XP_005262880.1:p.Leu443Pro
XM_006714137.1:c.1550T>C (F11) XP_006714200.1:p.Leu517Pro
XR_938706.1:n.2003T>C (F11)
XR_938707.1:n.1907T>C (F11)
XM_005262821.4:c.1598T>C (F11) XP_005262878.1:p.Leu533Pro
XM_005262822.4:c.1502T>C (F11) XP_005262879.1:p.Leu501Pro
XM_005262823.4:c.1328T>C (F11) XP_005262880.1:p.Leu443Pro
XM_006714137.3:c.1550T>C (F11) XP_006714200.1:p.Leu517Pro
NM_000128.4:c.1595T>C (F11) MANE Select NP_000119.1:p.Leu532Pro