Canonical Allele Identifier: CA384006659

Gene: ATF7IP

Linked Data

• gnomAD v4: 12-14434375-G-A
• MyVariant Identifiers: chr12:g.14587309G>A (hg19) ; chr12:g.14434375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14434375G>A , CM000674.2:g.14434375G>A	GRCh38
NC_000012.11:g.14587309G>A , CM000674.1:g.14587309G>A	GRCh37
NC_000012.10:g.14478576G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261168.9:c.1597G>A MANE Select	ENSP00000261168.4:p.Glu533Lys
ENST00000261168.8:c.1597G>A	ENSP00000261168.4:p.Glu533Lys
ENST00000536444.5:c.1594G>A	ENSP00000445955.1:p.Glu532Lys
ENST00000537653.5:n.1755G>A
ENST00000538511.5:c.-87G>A	ENSP00000440587.1:n.-87G>A
ENST00000539659.5:n.1753G>A
ENST00000540793.5:c.1597G>A	ENSP00000444589.1:p.Glu533Lys
ENST00000541654.1:n.1689G>A
ENST00000543189.5:c.1594G>A	ENSP00000443179.1:p.Glu532Lys
ENST00000544627.5:c.1621G>A	ENSP00000440440.1:p.Glu541Lys
ENST00000545723.1:c.256-1820G>A	ENSP00000444620.1:n.256-1820G>A
NM_001286514.1:c.1594G>A	NP_001273443.1:p.Glu532Lys
NM_001286515.1:c.1594G>A	NP_001273444.1:p.Glu532Lys
NM_018179.4:c.1597G>A	NP_060649.3:p.Glu533Lys
NM_181352.1:c.1621G>A	NP_851997.1:p.Glu541Lys
XM_005253424.2:c.1618G>A	XP_005253481.1:p.Glu540Lys
XM_006719108.2:c.1597G>A	XP_006719171.1:p.Glu533Lys
XM_006719109.2:c.1597G>A	XP_006719172.1:p.Glu533Lys
XM_011520754.1:c.1597G>A	XP_011519056.1:p.Glu533Lys
XM_011520755.1:c.1597G>A	XP_011519057.1:p.Glu533Lys
XM_011520756.1:c.1621G>A	XP_011519058.1:p.Glu541Lys
XM_011520757.1:c.1621G>A	XP_011519059.1:p.Glu541Lys
XM_011520758.1:c.1618G>A	XP_011519060.1:p.Glu540Lys
XM_011520759.1:c.1594G>A	XP_011519061.1:p.Glu532Lys
XM_005253424.4:c.1618G>A	XP_005253481.1:p.Glu540Lys
XM_006719108.3:c.1597G>A	XP_006719171.1:p.Glu533Lys
XM_006719109.3:c.1597G>A	XP_006719172.1:p.Glu533Lys
XM_011520754.3:c.1597G>A	XP_011519056.1:p.Glu533Lys
XM_011520755.2:c.1597G>A	XP_011519057.1:p.Glu533Lys
XM_011520756.3:c.1621G>A	XP_011519058.1:p.Glu541Lys
XM_017019638.1:c.1597G>A	XP_016875127.1:p.Glu533Lys
XM_017019639.1:c.1594G>A	XP_016875128.1:p.Glu532Lys
XR_001748806.2:n.1665G>A
XR_001748807.2:n.1662G>A
XR_001748808.2:n.1792G>A
XR_001748809.2:n.1789G>A
NM_001286514.2:c.1594G>A	NP_001273443.1:p.Glu532Lys
NM_001286515.2:c.1594G>A	NP_001273444.1:p.Glu532Lys
NM_181352.2:c.1621G>A	NP_851997.1:p.Glu541Lys
NM_001388179.1:c.1618G>A	NP_001375108.1:p.Glu540Lys
NM_001388180.1:c.1597G>A	NP_001375109.1:p.Glu533Lys
NM_001388181.1:c.1597G>A	NP_001375110.1:p.Glu533Lys
NM_001388182.1:c.1597G>A	NP_001375111.1:p.Glu533Lys
NM_001388183.1:c.1597G>A	NP_001375112.1:p.Glu533Lys
NM_001388184.1:c.1594G>A	NP_001375113.1:p.Glu532Lys
NM_018179.5:c.1597G>A MANE Select	NP_060649.3:p.Glu533Lys
NR_170893.1:n.1750G>A