Canonical Allele Identifier: CA2093815
Community Standard Title: NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu)
Gene: FN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215372042G>A , CM000664.2:g.215372042G>A GRCh38
NC_000002.11:g.216236765G>A , CM000664.1:g.216236765G>A GRCh37
NC_000002.10:g.215945010G>A NCBI36
NG_012196.1:g.69027C>T

Transcript Alleles

HGVS Amino-acid Change
NM_212482.4:c.6581C>T MANE Select NP_997647.2:p.Pro2194Leu
ENST00000354785.11:c.6581C>T MANE Select ENSP00000346839.4:p.Pro2194Leu
NM_001306129.1:c.6515-27C>T NP_001293058.1:n.6515-27C>T
NM_001306129.2:c.6515-27C>T NP_001293058.2:n.6515-27C>T
NM_001306130.1:c.5978-27C>T NP_001293059.1:n.5978-27C>T
NM_001306130.2:c.5978-27C>T NP_001293059.2:n.5978-27C>T
NM_001306131.1:c.5972-27C>T NP_001293060.1:n.5972-27C>T
NM_001306131.2:c.5972-27C>T NP_001293060.2:n.5972-27C>T
NM_001306132.1:c.5897-27C>T NP_001293061.1:n.5897-27C>T
NM_001306132.2:c.5897-27C>T NP_001293061.2:n.5897-27C>T
NM_001365517.1:c.6311C>T NP_001352446.1:p.Pro2104Leu
NM_001365517.2:c.6311C>T NP_001352446.1:p.Pro2104Leu
NM_001365518.1:c.6308C>T NP_001352447.1:p.Pro2103Leu
NM_001365518.2:c.6308C>T NP_001352447.1:p.Pro2103Leu
NM_001365519.1:c.6236C>T NP_001352448.1:p.Pro2079Leu
NM_001365519.2:c.6236C>T NP_001352448.1:p.Pro2079Leu
NM_001365520.1:c.6233C>T NP_001352449.1:p.Pro2078Leu
NM_001365520.2:c.6233C>T NP_001352449.1:p.Pro2078Leu
NM_001365521.1:c.6245-27C>T NP_001352450.1:n.6245-27C>T
NM_001365521.2:c.6245-27C>T NP_001352450.1:n.6245-27C>T
NM_001365522.1:c.6170-27C>T NP_001352451.1:n.6170-27C>T
NM_001365522.2:c.6170-27C>T NP_001352451.1:n.6170-27C>T
NM_001365523.1:c.5963C>T NP_001352452.1:p.Pro1988Leu
NM_001365523.2:c.5963C>T NP_001352452.1:p.Pro1988Leu
NM_001365524.1:c.5975-27C>T NP_001352453.1:n.5975-27C>T
NM_001365524.2:c.5975-27C>T NP_001352453.1:n.5975-27C>T
NM_002026.2:c.6242-27C>T NP_002017.1:n.6242-27C>T
NM_002026.3:c.6242-27C>T NP_002017.1:n.6242-27C>T
NM_002026.4:c.6242-27C>T NP_002017.2:n.6242-27C>T
NM_212474.1:c.5705-27C>T NP_997639.1:n.5705-27C>T
NM_212474.2:c.5705-27C>T NP_997639.1:n.5705-27C>T
NM_212474.3:c.5705-27C>T NP_997639.2:n.5705-27C>T
NM_212476.1:c.6038C>T NP_997641.1:p.Pro2013Leu
NM_212476.2:c.6038C>T NP_997641.1:p.Pro2013Leu
NM_212476.3:c.6038C>T NP_997641.2:p.Pro2013Leu
NM_212478.1:c.6167-27C>T NP_997643.1:n.6167-27C>T
NM_212478.2:c.6167-27C>T NP_997643.1:n.6167-27C>T
NM_212478.3:c.6167-27C>T NP_997643.2:n.6167-27C>T
NM_212482.1:c.6581C>T NP_997647.1:p.Pro2194Leu
NM_212482.2:c.6581C>T NP_997647.1:p.Pro2194Leu
NM_212482.3:c.6581C>T NP_997647.1:p.Pro2194Leu
ENST00000323926.10:c.6515-27C>T ENSP00000323534.6:n.6515-27C>T
ENST00000336916.8:c.6242-27C>T ENSP00000338200.4:n.6242-27C>T
ENST00000354785.8:c.6581C>T ENSP00000346839.4:p.Pro2194Leu
ENST00000356005.8:c.6038C>T ENSP00000348285.4:p.Pro2013Leu
ENST00000357867.8:c.5705-27C>T ENSP00000350534.4:n.5705-27C>T
ENST00000359671.5:c.6308C>T ENSP00000352696.1:p.Pro2103Leu
ENST00000421182.5:c.5897-27C>T ENSP00000394423.1:n.5897-27C>T
ENST00000432072.6:c.5978-27C>T ENSP00000399538.2:n.5978-27C>T
ENST00000438981.1:c.590C>T ENSP00000392565.1:p.Pro197Leu
ENST00000443816.5:c.5972-27C>T ENSP00000415018.1:n.5972-27C>T
ENST00000446046.5:c.6167-27C>T ENSP00000410422.1:n.6167-27C>T
ENST00000456923.5:c.2459C>T ENSP00000416139.1:p.Pro820Leu
ENST00000460217.1:n.626C>T
ENST00000461974.1:n.375-27C>T
ENST00000485567.1:n.398C>T
ENST00000492816.6:n.7652-27C>T
XM_005246397.1:c.6581C>T XP_005246454.1:p.Pro2194Leu
XM_005246398.1:c.6506C>T XP_005246455.1:p.Pro2169Leu
XM_005246399.1:c.6515-27C>T XP_005246456.1:n.6515-27C>T
XM_005246401.1:c.6440-27C>T XP_005246458.1:n.6440-27C>T
XM_005246402.1:c.6440-27C>T XP_005246459.1:n.6440-27C>T
XM_005246403.1:c.6311C>T XP_005246460.1:p.Pro2104Leu
XM_005246404.1:c.6308C>T XP_005246461.1:p.Pro2103Leu
XM_005246405.1:c.6311C>T XP_005246462.1:p.Pro2104Leu
XM_005246406.1:c.6308C>T XP_005246463.1:p.Pro2103Leu
XM_005246407.1:c.6248-27C>T XP_005246464.1:n.6248-27C>T
XM_005246408.1:c.6245-27C>T XP_005246465.1:n.6245-27C>T
XM_005246409.1:c.6233C>T XP_005246466.1:p.Pro2078Leu
XM_005246410.1:c.6170-27C>T XP_005246467.1:n.6170-27C>T
XM_005246411.1:c.5978-27C>T XP_005246468.1:n.5978-27C>T
XM_005246412.1:c.5963C>T XP_005246469.1:p.Pro1988Leu
XM_005246414.1:c.5975-27C>T XP_005246471.1:n.5975-27C>T
XM_005246416.1:c.5897-27C>T XP_005246473.1:n.5897-27C>T
XM_017003692.1:c.6248-27C>T XP_016859181.1:n.6248-27C>T
XM_017003695.1:c.6038C>T XP_016859184.1:p.Pro2013Leu
XM_024452769.1:c.6506C>T XP_024308537.1:p.Pro2169Leu
XM_024452770.1:c.6236C>T XP_024308538.1:p.Pro2079Leu