Canonical Allele Identifier: CA6461765

Gene: ATF7IP

Linked Data

• ClinVar Variation Id: 3130827
• ClinVar RCV Id: RCV004423224
• dbSNP Id: rs142252576
• ExAC: 12:14587317 G / C
• gnomAD v2: 12-14587317-G-C
• gnomAD v3: 12-14434383-G-C
• gnomAD v4: 12-14434383-G-C
• MyVariant Identifiers: chr12:g.14587317G>C (hg19) ; chr12:g.14434383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14434383G>C , CM000674.2:g.14434383G>C	GRCh38
NC_000012.11:g.14587317G>C , CM000674.1:g.14587317G>C	GRCh37
NC_000012.10:g.14478584G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261168.9:c.1605G>C MANE Select	ENSP00000261168.4:p.Glu535Asp
ENST00000261168.8:c.1605G>C	ENSP00000261168.4:p.Glu535Asp
ENST00000536444.5:c.1602G>C	ENSP00000445955.1:p.Glu534Asp
ENST00000537653.5:n.1763G>C
ENST00000538511.5:c.-79G>C	ENSP00000440587.1:n.-79G>C
ENST00000539659.5:n.1761G>C
ENST00000540793.5:c.1605G>C	ENSP00000444589.1:p.Glu535Asp
ENST00000541654.1:n.1697G>C
ENST00000543189.5:c.1602G>C	ENSP00000443179.1:p.Glu534Asp
ENST00000544627.5:c.1629G>C	ENSP00000440440.1:p.Glu543Asp
ENST00000545723.1:c.256-1812G>C	ENSP00000444620.1:n.256-1812G>C
NM_001286514.1:c.1602G>C	NP_001273443.1:p.Glu534Asp
NM_001286515.1:c.1602G>C	NP_001273444.1:p.Glu534Asp
NM_018179.4:c.1605G>C	NP_060649.3:p.Glu535Asp
NM_181352.1:c.1629G>C	NP_851997.1:p.Glu543Asp
XM_005253424.2:c.1626G>C	XP_005253481.1:p.Glu542Asp
XM_006719108.2:c.1605G>C	XP_006719171.1:p.Glu535Asp
XM_006719109.2:c.1605G>C	XP_006719172.1:p.Glu535Asp
XM_011520754.1:c.1605G>C	XP_011519056.1:p.Glu535Asp
XM_011520755.1:c.1605G>C	XP_011519057.1:p.Glu535Asp
XM_011520756.1:c.1629G>C	XP_011519058.1:p.Glu543Asp
XM_011520757.1:c.1629G>C	XP_011519059.1:p.Glu543Asp
XM_011520758.1:c.1626G>C	XP_011519060.1:p.Glu542Asp
XM_011520759.1:c.1602G>C	XP_011519061.1:p.Glu534Asp
XM_005253424.4:c.1626G>C	XP_005253481.1:p.Glu542Asp
XM_006719108.3:c.1605G>C	XP_006719171.1:p.Glu535Asp
XM_006719109.3:c.1605G>C	XP_006719172.1:p.Glu535Asp
XM_011520754.3:c.1605G>C	XP_011519056.1:p.Glu535Asp
XM_011520755.2:c.1605G>C	XP_011519057.1:p.Glu535Asp
XM_011520756.3:c.1629G>C	XP_011519058.1:p.Glu543Asp
XM_017019638.1:c.1605G>C	XP_016875127.1:p.Glu535Asp
XM_017019639.1:c.1602G>C	XP_016875128.1:p.Glu534Asp
XR_001748806.2:n.1673G>C
XR_001748807.2:n.1670G>C
XR_001748808.2:n.1800G>C
XR_001748809.2:n.1797G>C
NM_001286514.2:c.1602G>C	NP_001273443.1:p.Glu534Asp
NM_001286515.2:c.1602G>C	NP_001273444.1:p.Glu534Asp
NM_181352.2:c.1629G>C	NP_851997.1:p.Glu543Asp
NM_001388179.1:c.1626G>C	NP_001375108.1:p.Glu542Asp
NM_001388180.1:c.1605G>C	NP_001375109.1:p.Glu535Asp
NM_001388181.1:c.1605G>C	NP_001375110.1:p.Glu535Asp
NM_001388182.1:c.1605G>C	NP_001375111.1:p.Glu535Asp
NM_001388183.1:c.1605G>C	NP_001375112.1:p.Glu535Asp
NM_001388184.1:c.1602G>C	NP_001375113.1:p.Glu534Asp
NM_018179.5:c.1605G>C MANE Select	NP_060649.3:p.Glu535Asp
NR_170893.1:n.1758G>C