Canonical Allele Identifier: CA3166998
Community Standard Title: NM_005245.4(FAT1):c.3535A>T (p.Thr1179Ser)
Gene: FAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186663344T>A , CM000666.2:g.186663344T>A GRCh38
NC_000004.11:g.187584498T>A , CM000666.1:g.187584498T>A GRCh37
NC_000004.10:g.187821492T>A NCBI36
NG_046994.1:g.68572A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005245.4:c.3535A>T MANE Select NP_005236.2:p.Thr1179Ser
ENST00000441802.7:c.3535A>T MANE Select ENSP00000406229.2:p.Thr1179Ser
NM_005245.3:c.3535A>T NP_005236.2:p.Thr1179Ser
ENST00000441802.6:c.3535A>T ENSP00000406229.2:p.Thr1179Ser
ENST00000614102.4:c.3535A>T ENSP00000479573.1:p.Thr1179Ser
XM_005262834.2:c.3535A>T XP_005262891.1:p.Thr1179Ser
XM_005262834.3:c.3535A>T XP_005262891.1:p.Thr1179Ser
XM_005262835.1:c.3535A>T XP_005262892.1:p.Thr1179Ser
XM_005262835.2:c.3535A>T XP_005262892.1:p.Thr1179Ser
XM_006714139.2:c.3535A>T XP_006714202.1:p.Thr1179Ser
XM_006714139.3:c.3535A>T XP_006714202.1:p.Thr1179Ser