Canonical Allele Identifier: CA6461563
Community Standard Title: NM_018179.5(ATF7IP):c.445C>T (p.Leu149=)
Gene: ATF7IP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14424360C>T , CM000674.2:g.14424360C>T GRCh38
NC_000012.11:g.14577294C>T , CM000674.1:g.14577294C>T GRCh37
NC_000012.10:g.14468561C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018179.5:c.445C>T MANE Select NP_060649.3:p.Leu149=
ENST00000261168.9:c.445C>T MANE Select ENSP00000261168.4:p.Leu149=
NM_001286514.1:c.445C>T NP_001273443.1:p.Leu149=
NM_001286514.2:c.445C>T NP_001273443.1:p.Leu149=
NM_001286515.1:c.445C>T NP_001273444.1:p.Leu149=
NM_001286515.2:c.445C>T NP_001273444.1:p.Leu149=
NM_001388179.1:c.469C>T NP_001375108.1:p.Leu157=
NM_001388180.1:c.445C>T NP_001375109.1:p.Leu149=
NM_001388181.1:c.445C>T NP_001375110.1:p.Leu149=
NM_001388182.1:c.445C>T NP_001375111.1:p.Leu149=
NM_001388183.1:c.445C>T NP_001375112.1:p.Leu149=
NM_001388184.1:c.445C>T NP_001375113.1:p.Leu149=
NM_018179.4:c.445C>T NP_060649.3:p.Leu149=
NM_181352.1:c.469C>T NP_851997.1:p.Leu157=
NM_181352.2:c.469C>T NP_851997.1:p.Leu157=
NR_170893.1:n.598C>T
ENST00000261168.8:c.445C>T ENSP00000261168.4:p.Leu149=
ENST00000396279.2:c.445C>T ENSP00000379575.2:p.Leu149=
ENST00000534828.1:c.445C>T ENSP00000439279.1:p.Leu149=
ENST00000536444.5:c.445C>T ENSP00000445955.1:p.Leu149=
ENST00000537653.5:n.603C>T
ENST00000538511.5:c.-125-9977C>T ENSP00000440587.1:n.-125-9977C>T
ENST00000539057.1:c.445C>T ENSP00000439578.1:p.Leu149=
ENST00000539659.5:n.604C>T
ENST00000540793.5:c.445C>T ENSP00000444589.1:p.Leu149=
ENST00000541056.1:c.445C>T ENSP00000441483.1:p.Leu149=
ENST00000541654.1:n.537C>T
ENST00000542967.1:c.445C>T ENSP00000444784.1:p.Leu149=
ENST00000543189.5:c.445C>T ENSP00000443179.1:p.Leu149=
ENST00000544627.5:c.469C>T ENSP00000440440.1:p.Leu157=
ENST00000545723.1:c.255+190C>T ENSP00000444620.1:n.255+190C>T
ENST00000545769.1:c.445C>T ENSP00000446260.1:p.Leu149=
XM_005253424.2:c.469C>T XP_005253481.1:p.Leu157=
XM_005253424.4:c.469C>T XP_005253481.1:p.Leu157=
XM_006719108.2:c.445C>T XP_006719171.1:p.Leu149=
XM_006719108.3:c.445C>T XP_006719171.1:p.Leu149=
XM_006719109.2:c.445C>T XP_006719172.1:p.Leu149=
XM_006719109.3:c.445C>T XP_006719172.1:p.Leu149=
XM_011520754.1:c.445C>T XP_011519056.1:p.Leu149=
XM_011520754.3:c.445C>T XP_011519056.1:p.Leu149=
XM_011520755.1:c.445C>T XP_011519057.1:p.Leu149=
XM_011520755.2:c.445C>T XP_011519057.1:p.Leu149=
XM_011520756.1:c.469C>T XP_011519058.1:p.Leu157=
XM_011520756.3:c.469C>T XP_011519058.1:p.Leu157=
XM_011520757.1:c.469C>T XP_011519059.1:p.Leu157=
XM_011520758.1:c.469C>T XP_011519060.1:p.Leu157=
XM_011520759.1:c.445C>T XP_011519061.1:p.Leu149=
XM_017019638.1:c.445C>T XP_016875127.1:p.Leu149=
XM_017019639.1:c.445C>T XP_016875128.1:p.Leu149=
XR_001748806.2:n.513C>T
XR_001748807.2:n.513C>T
XR_001748808.2:n.640C>T
XR_001748809.2:n.640C>T