Canonical Allele Identifier: CA358938665
Community Standard Title: NM_000128.4(F11):c.1049T>C (p.Leu350Pro)
Gene: F11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280494T>C , CM000666.2:g.186280494T>C GRCh38
NC_000004.11:g.187201648T>C , CM000666.1:g.187201648T>C GRCh37
NC_000004.10:g.187438642T>C NCBI36
NG_008051.1:g.19531T>C , LRG_583:g.19531T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000128.4:c.1049T>C MANE Select NP_000119.1:p.Leu350Pro
ENST00000403665.7:c.1049T>C MANE Select ENSP00000384957.2:p.Leu350Pro
NM_000128.3:c.1049T>C , LRG_583t1:c.1049T>C NP_000119.1:p.Leu350Pro
ENST00000264692.8:c.887T>C ENSP00000264692.5:p.Leu296Pro
ENST00000403665.6:c.1049T>C ENSP00000384957.2:p.Leu350Pro
ENST00000452239.1:c.496T>C
XM_005262821.2:c.1052T>C XP_005262878.1:p.Leu351Pro
XM_005262821.4:c.1052T>C XP_005262878.1:p.Leu351Pro
XM_005262822.2:c.1052T>C XP_005262879.1:p.Leu351Pro
XM_005262822.4:c.1052T>C XP_005262879.1:p.Leu351Pro
XM_005262823.2:c.782T>C XP_005262880.1:p.Leu261Pro
XM_005262823.4:c.782T>C XP_005262880.1:p.Leu261Pro
XM_005262824.1:c.1052T>C XP_005262881.1:p.Leu351Pro
XM_006714137.1:c.1004T>C XP_006714200.1:p.Leu335Pro
XM_006714137.3:c.1004T>C XP_006714200.1:p.Leu335Pro
XM_017007884.2:c.1052T>C XP_016863373.1:p.Leu351Pro
XM_017007885.2:c.1052T>C XP_016863374.1:p.Leu351Pro
XM_017007886.2:c.1049T>C XP_016863375.1:p.Leu350Pro
XR_001741172.2:n.1470T>C
XR_938706.1:n.1404T>C
XR_938707.1:n.1404T>C