Canonical Allele Identifier: CA384006644

Gene: ATF7IP

Linked Data

• dbSNP Id: rs3213764
• gnomAD v4: 12-14434367-A-T
• MyVariant Identifiers: chr12:g.14587301A>T (hg19) ; chr12:g.14434367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14434367A>T , CM000674.2:g.14434367A>T	GRCh38
NC_000012.11:g.14587301A>T , CM000674.1:g.14587301A>T	GRCh37
NC_000012.10:g.14478568A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261168.9:c.1589A>T MANE Select	ENSP00000261168.4:p.Lys530Ile
ENST00000261168.8:c.1589A>T	ENSP00000261168.4:p.Lys530Ile
ENST00000536444.5:c.1586A>T	ENSP00000445955.1:p.Lys529Ile
ENST00000537653.5:n.1747A>T
ENST00000538511.5:c.-95A>T	ENSP00000440587.1:n.-95A>T
ENST00000539659.5:n.1745A>T
ENST00000540793.5:c.1589A>T	ENSP00000444589.1:p.Lys530Ile
ENST00000541654.1:n.1681A>T
ENST00000543189.5:c.1586A>T	ENSP00000443179.1:p.Lys529Ile
ENST00000544627.5:c.1613A>T	ENSP00000440440.1:p.Lys538Ile
ENST00000545723.1:c.256-1828A>T	ENSP00000444620.1:n.256-1828A>T
NM_001286514.1:c.1586A>T	NP_001273443.1:p.Lys529Ile
NM_001286515.1:c.1586A>T	NP_001273444.1:p.Lys529Ile
NM_018179.4:c.1589A>T	NP_060649.3:p.Lys530Ile
NM_181352.1:c.1613A>T	NP_851997.1:p.Lys538Ile
XM_005253424.2:c.1610A>T	XP_005253481.1:p.Lys537Ile
XM_006719108.2:c.1589A>T	XP_006719171.1:p.Lys530Ile
XM_006719109.2:c.1589A>T	XP_006719172.1:p.Lys530Ile
XM_011520754.1:c.1589A>T	XP_011519056.1:p.Lys530Ile
XM_011520755.1:c.1589A>T	XP_011519057.1:p.Lys530Ile
XM_011520756.1:c.1613A>T	XP_011519058.1:p.Lys538Ile
XM_011520757.1:c.1613A>T	XP_011519059.1:p.Lys538Ile
XM_011520758.1:c.1610A>T	XP_011519060.1:p.Lys537Ile
XM_011520759.1:c.1586A>T	XP_011519061.1:p.Lys529Ile
XM_005253424.4:c.1610A>T	XP_005253481.1:p.Lys537Ile
XM_006719108.3:c.1589A>T	XP_006719171.1:p.Lys530Ile
XM_006719109.3:c.1589A>T	XP_006719172.1:p.Lys530Ile
XM_011520754.3:c.1589A>T	XP_011519056.1:p.Lys530Ile
XM_011520755.2:c.1589A>T	XP_011519057.1:p.Lys530Ile
XM_011520756.3:c.1613A>T	XP_011519058.1:p.Lys538Ile
XM_017019638.1:c.1589A>T	XP_016875127.1:p.Lys530Ile
XM_017019639.1:c.1586A>T	XP_016875128.1:p.Lys529Ile
XR_001748806.2:n.1657A>T
XR_001748807.2:n.1654A>T
XR_001748808.2:n.1784A>T
XR_001748809.2:n.1781A>T
NM_001286514.2:c.1586A>T	NP_001273443.1:p.Lys529Ile
NM_001286515.2:c.1586A>T	NP_001273444.1:p.Lys529Ile
NM_181352.2:c.1613A>T	NP_851997.1:p.Lys538Ile
NM_001388179.1:c.1610A>T	NP_001375108.1:p.Lys537Ile
NM_001388180.1:c.1589A>T	NP_001375109.1:p.Lys530Ile
NM_001388181.1:c.1589A>T	NP_001375110.1:p.Lys530Ile
NM_001388182.1:c.1589A>T	NP_001375111.1:p.Lys530Ile
NM_001388183.1:c.1589A>T	NP_001375112.1:p.Lys530Ile
NM_001388184.1:c.1586A>T	NP_001375113.1:p.Lys529Ile
NM_018179.5:c.1589A>T MANE Select	NP_060649.3:p.Lys530Ile
NR_170893.1:n.1742A>T