Canonical Allele Identifier: CA4127735

Gene: BRAT1

Linked Data

• dbSNP Id: rs762040027
• ExAC: 7:2579446 C / T
• gnomAD v2: 7-2579446-C-T
• gnomAD v3: 7-2539812-C-T
• gnomAD v4: 7-2539812-C-T
• MyVariant Identifiers: chr7:g.2579446C>T (hg19) ; chr7:g.2539812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539812C>T , CM000669.2:g.2539812C>T	GRCh38
NC_000007.13:g.2579446C>T , CM000669.1:g.2579446C>T	GRCh37
NC_000007.12:g.2545972C>T	NCBI36
NG_032167.1:g.20947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1472G>A MANE Select	ENSP00000339637.4:p.Gly491Asp
ENST00000340611.8:c.1472G>A	ENSP00000339637.4:p.Gly491Asp
ENST00000467558.5:n.2844G>A
ENST00000469750.5:n.4044G>A
ENST00000473879.1:n.188G>A
ENST00000493232.5:n.4208G>A
NM_152743.3:c.1472G>A	NP_689956.2:p.Gly491Asp
XM_005249643.3:c.1472G>A	XP_005249700.1:p.Gly491Asp
XM_011515177.1:c.1556G>A	XP_011513479.1:p.Gly519Asp
XM_011515178.1:c.1556G>A	XP_011513480.1:p.Gly519Asp
XM_011515179.1:c.1553G>A	XP_011513481.1:p.Gly518Asp
XM_011515180.1:c.1526G>A	XP_011513482.1:p.Gly509Asp
XM_011515181.1:c.1556G>A	XP_011513483.1:p.Gly519Asp
XM_011515182.1:c.1556G>A	XP_011513484.1:p.Gly519Asp
XM_011515183.1:c.1031G>A	XP_011513485.1:p.Gly344Asp
XM_011515184.1:c.1031G>A	XP_011513486.1:p.Gly344Asp
XM_011515185.1:c.1472G>A	XP_011513487.1:p.Gly491Asp
XM_011515186.1:c.1556G>A	XP_011513488.1:p.Gly519Asp
XM_011515187.1:c.128G>A	XP_011513489.1:p.Gly43Asp
NM_001350626.1:c.1472G>A	NP_001337555.1:p.Gly491Asp
NM_001350627.1:c.947G>A	NP_001337556.1:p.Gly316Asp
NR_146879.1:n.1889G>A
XM_011515177.2:c.1556G>A	XP_011513479.1:p.Gly519Asp
XM_011515179.2:c.1553G>A	XP_011513481.1:p.Gly518Asp
XM_011515181.2:c.1556G>A	XP_011513483.1:p.Gly519Asp
XM_011515182.2:c.1556G>A	XP_011513484.1:p.Gly519Asp
XM_011515184.3:c.1031G>A	XP_011513486.1:p.Gly344Asp
XM_011515186.2:c.1556G>A	XP_011513488.1:p.Gly519Asp
XM_017011833.1:c.1469G>A	XP_016867322.1:p.Gly490Asp
XM_017011834.1:c.1469G>A	XP_016867323.1:p.Gly490Asp
XM_017011836.2:c.1472G>A	XP_016867325.1:p.Gly491Asp
XM_024446682.1:c.128G>A	XP_024302450.1:p.Gly43Asp
NM_152743.4:c.1472G>A MANE Select	NP_689956.2:p.Gly491Asp
NM_001350626.2:c.1472G>A	NP_001337555.1:p.Gly491Asp
NM_001350627.2:c.947G>A	NP_001337556.1:p.Gly316Asp
NR_146879.2:n.1655G>A