Canonical Allele Identifier: CA3167417

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186708171C>T , CM000666.2:g.186708171C>T	GRCh38
NC_000004.11:g.187629325C>T , CM000666.1:g.187629325C>T	GRCh37
NC_000004.10:g.187866319C>T	NCBI36
NG_046994.1:g.23745G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.1657G>A MANE Select	NP_005236.2:p.Val553Ile
ENST00000441802.7:c.1657G>A MANE Select	ENSP00000406229.2:p.Val553Ile
NM_005245.3:c.1657G>A	NP_005236.2:p.Val553Ile
ENST00000441802.6:c.1657G>A	ENSP00000406229.2:p.Val553Ile
ENST00000614102.4:c.1657G>A	ENSP00000479573.1:p.Val553Ile
XM_005262834.2:c.1657G>A	XP_005262891.1:p.Val553Ile
XM_005262834.3:c.1657G>A	XP_005262891.1:p.Val553Ile
XM_005262835.1:c.1657G>A	XP_005262892.1:p.Val553Ile
XM_005262835.2:c.1657G>A	XP_005262892.1:p.Val553Ile
XM_006714139.2:c.1657G>A	XP_006714202.1:p.Val553Ile
XM_006714139.3:c.1657G>A	XP_006714202.1:p.Val553Ile