Canonical Allele Identifier: CA3690657

Gene: ZFP57

Linked Data

• dbSNP Id: rs769528747
• ExAC: 6:29640335 T / A
• MyVariant Identifiers: chr6:g.29640335T>A (hg19) ; chr6:g.29672558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29672558T>A , CM000668.2:g.29672558T>A	GRCh38
NC_000006.11:g.29640335T>A , CM000668.1:g.29640335T>A	GRCh37
NC_000006.10:g.29748314T>A	NCBI36
NG_013045.1:g.9597A>T
NG_031873.1:g.20578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376883.2:c.1553A>T MANE Select	ENSP00000366080.2:p.Glu518Val
ENST00000488757.6:c.1337A>T	ENSP00000418259.2:p.Glu446Val
ENST00000376881.4:c.1301A>T	ENSP00000366078.4:p.Glu434Val
ENST00000376883.1:c.1493A>T	ENSP00000366080.1:p.Glu498Val
ENST00000488757.5:c.1553A>T	ENSP00000418259.1:p.Glu518Val
NM_001109809.2:c.1553A>T	NP_001103279.2:p.Glu518Val
XM_006715087.2:c.1337A>T	XP_006715150.1:p.Glu446Val
XM_011514570.1:c.1553A>T	XP_011512872.1:p.Glu518Val
NM_001109809.3:c.1553A>T	NP_001103279.2:p.Glu518Val
NM_001366333.1:c.1337A>T	NP_001353262.1:p.Glu446Val
NM_001109809.4:c.1553A>T	NP_001103279.2:p.Glu518Val
NM_001366333.2:c.1337A>T	NP_001353262.1:p.Glu446Val
NM_001109809.5:c.1553A>T MANE Select	NP_001103279.2:p.Glu518Val