Canonical Allele Identifier: CA1619371506

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31938208G= , CM000668.2:g.31938208G= GRCh38
NC_000006.11:g.31905985G= , CM000668.1:g.31905985G= GRCh37
NC_000006.10:g.32013964G= NCBI36
NG_011730.1:g.15720G= , LRG_26:g.15720G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000447952.7:c.943+749G= (C2) ENSP00000391354.3:n.943+749G=
ENST00000452323.7:c.487+749G= (C2) ENSP00000392322.2:n.487+749G=
ENST00000468407.2:c.1129+749G= (C2) ENSP00000512075.1:n.1129+749G=
ENST00000497706.6:c.490+749G= (C2) ENSP00000417482.2:n.490+749G=
ENST00000695637.1:c.724+749G= (C2) ENSP00000512074.1:n.724+749G=
ENST00000695638.1:c.1129+749G= (C2) ENSP00000512076.1:n.1129+749G=
ENST00000695644.1:c.733+749G= (C2) ENSP00000512079.1:n.733+749G=
ENST00000299367.10:c.1129+749G= (C2) MANE Select ENSP00000299367.5:n.1129+749G=
ENST00000299367.9:c.1129+749G= (C2) ENSP00000299367.5:n.1129+749G=
ENST00000383177.7:c.450+749G= (C2)
ENST00000442278.6:c.733+749G= (C2) ENSP00000395683.2:n.733+749G=
ENST00000452323.6:c.487+749G= (C2) ENSP00000392322.2:n.487+749G=
ENST00000456570.5:c.670+749G= ENSP00000410815.1:n.670+749G=
ENST00000469372.5:c.391+749G= (C2) ENSP00000418923.1:n.391+749G=
ENST00000477310.1:c.583+749G= ENSP00000418996.1:n.583+749G=
ENST00000482060.5:c.*842+749G= (C2) ENSP00000418332.1:n.*842+749G=
ENST00000485690.5:c.297+749G= (C2)
ENST00000486124.5:n.1405+749G= (C2)
ENST00000497706.5:c.490+749G= (C2) ENSP00000417482.1:n.490+749G=
NM_000063.5:c.1129+749G= (C2) NP_000054.2:n.1129+749G=
NM_001145903.2:c.733+749G= (C2) NP_001139375.1:n.733+749G=
NM_001178063.2:c.487+749G= (C2) NP_001171534.1:n.487+749G=
NM_001282457.1:c.391+749G= (C2) NP_001269386.1:n.391+749G=
NM_001282458.1:c.1042+749G= (C2) NP_001269387.1:n.1042+749G=
NR_104191.1:n.541-2806C= (C2-AS1)
NM_000063.6:c.1129+749G= (C2) MANE Select NP_000054.2:n.1129+749G=
NM_001145903.3:c.733+749G= (C2) NP_001139375.1:n.733+749G=
NM_001282457.2:c.391+749G= (C2) NP_001269386.1:n.391+749G=
NM_001282458.2:c.1042+749G= (C2) NP_001269387.1:n.1042+749G=
NM_001178063.3:c.487+749G= (C2) NP_001171534.1:n.487+749G=