Canonical Allele Identifier: CA7468950
Community Standard Title: NM_001321759.2(CDIN1):c.607G>T (p.Val203Phe)
Gene: CDIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.36709285G>T , CM000677.2:g.36709285G>T GRCh38
NC_000015.9:g.37001486G>T , CM000677.1:g.37001486G>T GRCh37
NC_000015.8:g.34788778G>T NCBI36
NG_034055.1:g.134683G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321759.2:c.607G>T MANE Select NP_001308688.1:p.Val203Phe
ENST00000566621.6:c.607G>T MANE Select ENSP00000455397.1:p.Val203Phe
NM_001130010.2:c.607G>T NP_001123482.1:p.Val203Phe
NM_001130010.3:c.607G>T NP_001123482.1:p.Val203Phe
NM_001290232.1:c.313G>T NP_001277161.1:p.Val105Phe
NM_001290232.2:c.313G>T NP_001277161.1:p.Val105Phe
NM_001290233.1:c.607G>T NP_001277162.1:p.Val203Phe
NM_001290233.2:c.607G>T NP_001277162.1:p.Val203Phe
NM_001321756.1:c.313G>T NP_001308685.1:p.Val105Phe
NM_001321756.2:c.313G>T NP_001308685.1:p.Val105Phe
NM_001321757.1:c.238G>T NP_001308686.1:p.Val80Phe
NM_001321757.2:c.238G>T NP_001308686.1:p.Val80Phe
NM_001321758.1:c.496G>T NP_001308687.1:p.Val166Phe
NM_001321758.2:c.496G>T NP_001308687.1:p.Val166Phe
NM_001321759.1:c.607G>T NP_001308688.1:p.Val203Phe
NM_001321760.1:c.607G>T NP_001308689.1:p.Val203Phe
NM_001321760.2:c.607G>T NP_001308689.1:p.Val203Phe
NM_001321761.1:c.607G>T NP_001308690.1:p.Val203Phe
NM_001321761.2:c.607G>T NP_001308690.1:p.Val203Phe
NM_032499.5:c.313G>T NP_115888.1:p.Val105Phe
NM_032499.6:c.313G>T NP_115888.1:p.Val105Phe
ENST00000338183.8:c.313G>T ENSP00000342433.4:p.Val105Phe
ENST00000437989.6:c.607G>T ENSP00000401362.2:p.Val203Phe
ENST00000562489.1:c.79G>T ENSP00000454334.1:p.Val27Phe
ENST00000562877.5:c.313G>T ENSP00000457854.1:p.Val105Phe
ENST00000565792.5:n.235G>T
ENST00000566621.5:c.607G>T ENSP00000455397.1:p.Val203Phe
ENST00000566677.1:n.4973G>T
ENST00000566807.5:c.313G>T ENSP00000454831.1:p.Val105Phe
ENST00000566932.5:n.138G>T
ENST00000567389.5:c.313G>T ENSP00000456736.1:p.Val105Phe
ENST00000569302.5:c.607G>T ENSP00000456477.1:p.Val203Phe
ENST00000569302.6:c.607G>T ENSP00000456477.1:p.Val203Phe
ENST00000570265.5:n.834G>T
ENST00000570265.6:c.607G>T ENSP00000493669.1:p.Val203Phe
ENST00000642817.1:c.*387G>T ENSP00000495947.1:n.*387G>T
ENST00000643612.1:c.238G>T ENSP00000496325.1:p.Val80Phe
ENST00000646533.1:c.607G>T ENSP00000494718.1:p.Val203Phe
ENST00000646657.1:c.*239G>T ENSP00000495542.1:n.*239G>T
XM_011522110.1:c.607G>T XP_011520412.1:p.Val203Phe
XM_011522111.1:c.607G>T XP_011520413.1:p.Val203Phe
XM_011522112.1:c.313G>T XP_011520414.1:p.Val105Phe
XM_017022676.1:c.409G>T XP_016878165.1:p.Val137Phe
XM_017022677.1:c.409G>T XP_016878166.1:p.Val137Phe
XM_024450088.1:c.313G>T XP_024305856.1:p.Val105Phe
XR_002957689.1:n.659G>T
XR_931921.1:n.857G>T
XR_931922.1:n.1714G>T
XR_931924.1:n.1688G>T