Canonical Allele Identifier: CA366626188

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539188-C-A
• MyVariant Identifiers: chr7:g.2578822C>A (hg19) ; chr7:g.2539188C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539188C>A , CM000669.2:g.2539188C>A	GRCh38
NC_000007.13:g.2578822C>A , CM000669.1:g.2578822C>A	GRCh37
NC_000007.12:g.2545348C>A	NCBI36
NG_032167.1:g.21571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1761G>T MANE Select	ENSP00000339637.4:p.Glu587Asp
ENST00000340611.8:c.1761G>T	ENSP00000339637.4:p.Glu587Asp
ENST00000467558.5:n.3133G>T
ENST00000469750.5:n.4333G>T
ENST00000473879.1:n.313+356G>T
ENST00000493232.5:n.4476+356G>T
NM_152743.3:c.1761G>T	NP_689956.2:p.Glu587Asp
XM_005249643.3:c.1761G>T	XP_005249700.1:p.Glu587Asp
XM_011515177.1:c.1845G>T	XP_011513479.1:p.Glu615Asp
XM_011515178.1:c.1845G>T	XP_011513480.1:p.Glu615Asp
XM_011515179.1:c.1842G>T	XP_011513481.1:p.Glu614Asp
XM_011515180.1:c.1815G>T	XP_011513482.1:p.Glu605Asp
XM_011515181.1:c.1845G>T	XP_011513483.1:p.Glu615Asp
XM_011515182.1:c.1845G>T	XP_011513484.1:p.Glu615Asp
XM_011515183.1:c.1320G>T	XP_011513485.1:p.Glu440Asp
XM_011515184.1:c.1320G>T	XP_011513486.1:p.Glu440Asp
XM_011515185.1:c.1761G>T	XP_011513487.1:p.Glu587Asp
XM_011515186.1:c.1681+356G>T	XP_011513488.1:n.1681+356G>T
XM_011515187.1:c.417G>T	XP_011513489.1:p.Glu139Asp
NM_001350626.1:c.1761G>T	NP_001337555.1:p.Glu587Asp
NM_001350627.1:c.1236G>T	NP_001337556.1:p.Glu412Asp
NR_146879.1:n.2178G>T
XM_011515177.2:c.1845G>T	XP_011513479.1:p.Glu615Asp
XM_011515179.2:c.1842G>T	XP_011513481.1:p.Glu614Asp
XM_011515181.2:c.1845G>T	XP_011513483.1:p.Glu615Asp
XM_011515182.2:c.1845G>T	XP_011513484.1:p.Glu615Asp
XM_011515184.3:c.1320G>T	XP_011513486.1:p.Glu440Asp
XM_011515186.2:c.1681+356G>T	XP_011513488.1:n.1681+356G>T
XM_017011833.1:c.1758G>T	XP_016867322.1:p.Glu586Asp
XM_017011834.1:c.1758G>T	XP_016867323.1:p.Glu586Asp
XM_017011836.2:c.1597+356G>T	XP_016867325.1:n.1597+356G>T
XM_024446682.1:c.417G>T	XP_024302450.1:p.Glu139Asp
NM_152743.4:c.1761G>T MANE Select	NP_689956.2:p.Glu587Asp
NM_001350626.2:c.1761G>T	NP_001337555.1:p.Glu587Asp
NM_001350627.2:c.1236G>T	NP_001337556.1:p.Glu412Asp
NR_146879.2:n.1944G>T