Canonical Allele Identifier: CA4127748

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 2231187
• ClinVar RCV Id: RCV002707919
• dbSNP Id: rs533528841
• ExAC: 7:2579495 G / A
• gnomAD v2: 7-2579495-G-A
• gnomAD v3: 7-2539861-G-A
• gnomAD v4: 7-2539861-G-A
• MyVariant Identifiers: chr7:g.2579495G>A (hg19) ; chr7:g.2539861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539861G>A , CM000669.2:g.2539861G>A	GRCh38
NC_000007.13:g.2579495G>A , CM000669.1:g.2579495G>A	GRCh37
NC_000007.12:g.2546021G>A	NCBI36
NG_032167.1:g.20898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1423C>T MANE Select	ENSP00000339637.4:p.Leu475Phe
ENST00000340611.8:c.1423C>T	ENSP00000339637.4:p.Leu475Phe
ENST00000467558.5:n.2795C>T
ENST00000469750.5:n.3995C>T
ENST00000473879.1:n.139C>T
ENST00000493232.5:n.4159C>T
NM_152743.3:c.1423C>T	NP_689956.2:p.Leu475Phe
XM_005249643.3:c.1423C>T	XP_005249700.1:p.Leu475Phe
XM_011515177.1:c.1507C>T	XP_011513479.1:p.Leu503Phe
XM_011515178.1:c.1507C>T	XP_011513480.1:p.Leu503Phe
XM_011515179.1:c.1504C>T	XP_011513481.1:p.Leu502Phe
XM_011515180.1:c.1477C>T	XP_011513482.1:p.Leu493Phe
XM_011515181.1:c.1507C>T	XP_011513483.1:p.Leu503Phe
XM_011515182.1:c.1507C>T	XP_011513484.1:p.Leu503Phe
XM_011515183.1:c.982C>T	XP_011513485.1:p.Leu328Phe
XM_011515184.1:c.982C>T	XP_011513486.1:p.Leu328Phe
XM_011515185.1:c.1423C>T	XP_011513487.1:p.Leu475Phe
XM_011515186.1:c.1507C>T	XP_011513488.1:p.Leu503Phe
XM_011515187.1:c.79C>T	XP_011513489.1:p.Leu27Phe
NM_001350626.1:c.1423C>T	NP_001337555.1:p.Leu475Phe
NM_001350627.1:c.898C>T	NP_001337556.1:p.Leu300Phe
NR_146879.1:n.1840C>T
XM_011515177.2:c.1507C>T	XP_011513479.1:p.Leu503Phe
XM_011515179.2:c.1504C>T	XP_011513481.1:p.Leu502Phe
XM_011515181.2:c.1507C>T	XP_011513483.1:p.Leu503Phe
XM_011515182.2:c.1507C>T	XP_011513484.1:p.Leu503Phe
XM_011515184.3:c.982C>T	XP_011513486.1:p.Leu328Phe
XM_011515186.2:c.1507C>T	XP_011513488.1:p.Leu503Phe
XM_017011833.1:c.1420C>T	XP_016867322.1:p.Leu474Phe
XM_017011834.1:c.1420C>T	XP_016867323.1:p.Leu474Phe
XM_017011836.2:c.1423C>T	XP_016867325.1:p.Leu475Phe
XM_024446682.1:c.79C>T	XP_024302450.1:p.Leu27Phe
NM_152743.4:c.1423C>T MANE Select	NP_689956.2:p.Leu475Phe
NM_001350626.2:c.1423C>T	NP_001337555.1:p.Leu475Phe
NM_001350627.2:c.898C>T	NP_001337556.1:p.Leu300Phe
NR_146879.2:n.1606C>T