Canonical Allele Identifier: CA363043368
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs1771756086
gnomAD v3: 6-29672745-T-A
gnomAD v4: 6-29672745-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672745T>A , CM000668.2:g.29672745T>A GRCh38
NC_000006.11:g.29640522T>A , CM000668.1:g.29640522T>A GRCh37
NC_000006.10:g.29748501T>A NCBI36
NG_013045.1:g.9410A>T
NG_031873.1:g.20765T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376883.2:c.1366A>T MANE Select ENSP00000366080.2:p.Met456Leu
ENST00000488757.6:c.1150A>T ENSP00000418259.2:p.Met384Leu
ENST00000376881.4:c.1114A>T ENSP00000366078.4:p.Met372Leu
ENST00000376883.1:c.1306A>T ENSP00000366080.1:p.Met436Leu
ENST00000488757.5:c.1366A>T ENSP00000418259.1:p.Met456Leu
NM_001109809.2:c.1366A>T NP_001103279.2:p.Met456Leu
XM_006715087.2:c.1150A>T XP_006715150.1:p.Met384Leu
XM_011514570.1:c.1366A>T XP_011512872.1:p.Met456Leu
NM_001109809.3:c.1366A>T NP_001103279.2:p.Met456Leu
NM_001366333.1:c.1150A>T NP_001353262.1:p.Met384Leu
NM_001109809.4:c.1366A>T NP_001103279.2:p.Met456Leu
NM_001366333.2:c.1150A>T NP_001353262.1:p.Met384Leu
NM_001109809.5:c.1366A>T MANE Select NP_001103279.2:p.Met456Leu