Canonical Allele Identifier: CA5457937

Linked Data

dbSNP Id: rs12416605

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.29602331C>T , CM000672.2:g.29602331C>T GRCh38
NC_000010.10:g.29891260C>T , CM000672.1:g.29891260C>T GRCh37
NC_000010.9:g.29931266C>T NCBI36
NG_033998.1:g.138471G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355867.9:c.-201+32089G>A (SVIL) MANE Select ENSP00000348128.4:n.-201+32089G>A
ENST00000674350.1:n.433+32196G>A (SVIL)
ENST00000674475.1:c.-200-33019G>A (SVIL) ENSP00000501521.1:n.-200-33019G>A
ENST00000674490.1:c.-200-33019G>A (SVIL) ENSP00000501398.1:n.-200-33019G>A
ENST00000355867.8:c.-201+32089G>A (SVIL) ENSP00000348128.4:n.-201+32089G>A
ENST00000375398.6:c.-201+32089G>A (SVIL) ENSP00000364547.3:n.-201+32089G>A
ENST00000375400.7:c.-200-33019G>A (SVIL) ENSP00000364549.3:n.-200-33019G>A
ENST00000483758.1:n.94-33019G>A (SVIL)
NM_003174.3:c.-200-33019G>A (SVIL) NP_003165.2:n.-200-33019G>A
NM_021738.2:c.-201+32089G>A (SVIL) NP_068506.2:n.-201+32089G>A
NR_030634.1:n.16G>A (MIR938)
XM_005252570.2:c.-200-33019G>A (SVIL) XP_005252627.1:n.-200-33019G>A
XM_005252571.2:c.-200-33019G>A (SVIL) XP_005252628.1:n.-200-33019G>A
XM_005252573.2:c.-201+32089G>A (SVIL) XP_005252630.1:n.-201+32089G>A
XM_011519634.1:c.-200-33019G>A (SVIL) XP_011517936.1:n.-200-33019G>A
XM_011519635.1:c.-201+32196G>A (SVIL) XP_011517937.1:n.-201+32196G>A
NM_001323599.1:c.-200-33019G>A (SVIL) NP_001310528.1:n.-200-33019G>A
NM_001323600.1:c.-200-33019G>A (SVIL) NP_001310529.1:n.-200-33019G>A
XM_005252571.4:c.-200-33019G>A (SVIL) XP_005252628.1:n.-200-33019G>A
XM_005252573.3:c.-201+32089G>A (SVIL) XP_005252630.1:n.-201+32089G>A
XM_011519635.2:c.-201+32196G>A (SVIL) XP_011517937.1:n.-201+32196G>A
XM_024448138.1:c.-158-26046G>A (SVIL) XP_024303906.1:n.-158-26046G>A
NM_001323599.2:c.-200-33019G>A (SVIL) NP_001310528.1:n.-200-33019G>A
NM_021738.3:c.-201+32089G>A (SVIL) MANE Select NP_068506.2:n.-201+32089G>A