Canonical Allele Identifier: CA560043

Gene: ESPN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6441010C>T , CM000663.2:g.6441010C>T	GRCh38
NC_000001.10:g.6501070C>T , CM000663.1:g.6501070C>T	GRCh37
NC_000001.9:g.6423657C>T	NCBI36
NG_015866.1:g.21223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636330.1:c.935C>T	ENSP00000490186.1:p.Ser312Leu
ENST00000645284.1:c.935C>T MANE Select	ENSP00000496593.1:p.Ser312Leu
ENST00000377828.5:c.935C>T	ENSP00000367059.1:p.Ser312Leu
ENST00000418286.1:c.290C>T	ENSP00000401793.1:p.Ser97Leu
NM_031475.2:c.935C>T	NP_113663.2:p.Ser312Leu
XM_005263501.2:c.935C>T	XP_005263558.1:p.Ser312Leu
XM_011542231.1:c.935C>T	XP_011540533.1:p.Ser312Leu
XM_011542232.1:c.935C>T	XP_011540534.1:p.Ser312Leu
XM_011542233.1:c.539C>T	XP_011540535.1:p.Ser180Leu
XM_011542235.1:c.935C>T	XP_011540537.1:p.Ser312Leu
XM_011542237.1:c.935C>T	XP_011540539.1:p.Ser312Leu
XM_011542238.1:c.935C>T	XP_011540540.1:p.Ser312Leu
XR_946774.1:n.1115C>T
XR_946775.1:n.1115C>T
NM_031475.3:c.935C>T MANE Select	NP_113663.2:p.Ser312Leu
XM_011542233.2:c.539C>T	XP_011540535.1:p.Ser180Leu
XM_011542238.3:c.935C>T	XP_011540540.1:p.Ser312Leu
XM_017002433.1:c.935C>T	XP_016857922.1:p.Ser312Leu
XM_017002434.1:c.935C>T	XP_016857923.1:p.Ser312Leu
XM_024450116.1:c.935C>T	XP_024305884.1:p.Ser312Leu
NM_001367473.1:c.935C>T	NP_001354402.1:p.Ser312Leu
NM_001367474.1:c.935C>T	NP_001354403.1:p.Ser312Leu