Canonical Allele Identifier: CA2581325366

Gene: CCDC57

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82101611C>G , CM000679.2:g.82101611C>G	GRCh38
NC_000017.10:g.80059487C>G , CM000679.1:g.80059487C>G	GRCh37
NC_000017.9:g.77652776C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001394669.1:c.*71G>C MANE Select	NP_001381598.1:n.*71G>C
ENST00000694881.1:c.*71G>C MANE Select	ENSP00000511565.1:n.*71G>C
NM_001367828.1:c.*71G>C	NP_001354757.1:n.*71G>C
NM_001367828.2:c.*71G>C	NP_001354757.1:n.*71G>C
NM_001394670.1:c.*71G>C	NP_001381599.1:n.*71G>C
NM_198082.2:c.*71G>C	NP_932348.2:n.*71G>C
NM_198082.3:c.*71G>C	NP_932348.2:n.*71G>C
NM_198082.4:c.*71G>C	NP_932348.2:n.*71G>C
ENST00000389641.8:c.*71G>C	ENSP00000374292.4:n.*71G>C
ENST00000389641.9:c.*71G>C	ENSP00000374292.5:n.*71G>C
ENST00000392347.5:c.*71G>C	ENSP00000376158.1:n.*71G>C
ENST00000583053.1:c.100-53G>C
ENST00000584717.1:n.362G>C
ENST00000665763.1:c.*71G>C	ENSP00000499556.1:n.*71G>C
ENST00000694882.1:c.*3058G>C	ENSP00000511566.1:n.*3058G>C
XM_017024463.2:c.*184G>C	XP_016879952.1:n.*184G>C
XM_017024466.2:c.*71G>C	XP_016879955.1:n.*71G>C
XM_017024479.1:c.*71G>C	XP_016879968.1:n.*71G>C
XM_017024483.1:c.*71G>C	XP_016879972.1:n.*71G>C
XR_001752484.1:n.3202G>C
XR_001752486.2:n.3170G>C
XR_001752487.1:n.9390G>C
XR_001752488.1:n.9559G>C
XR_001752491.1:n.9605G>C