Canonical Allele Identifier: CA15640453
Gene: EPC1 HGNC NCBI

Linked Data

dbSNP Id: rs2370759

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.32346044G>A , CM000672.2:g.32346044G>A GRCh38
NC_000010.10:g.32634972G>A , CM000672.1:g.32634972G>A GRCh37
NC_000010.9:g.32674978G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000319778.11:c.153+719C>T MANE Select ENSP00000318559.6:n.153+719C>T
ENST00000469059.2:c.154-421C>T ENSP00000499314.1:n.154-421C>T
ENST00000479380.2:n.194+32447C>T
ENST00000667706.1:c.153+719C>T ENSP00000499504.1:n.153+719C>T
ENST00000263062.8:c.153+719C>T ENSP00000263062.8:n.153+719C>T
ENST00000319778.10:c.153+719C>T ENSP00000318559.6:n.153+719C>T
ENST00000375110.6:c.3+32447C>T ENSP00000364251.2:n.3+32447C>T
ENST00000469059.1:n.360-421C>T
ENST00000480402.1:n.457-482C>T
ENST00000495790.1:n.57+719C>T
NM_001272004.1:c.153+719C>T NP_001258933.1:n.153+719C>T
NM_001272019.2:c.-8+890C>T NP_001258948.1:n.-8+890C>T
NM_001282391.1:c.3+32447C>T NP_001269320.1:n.3+32447C>T
NM_025209.3:c.153+719C>T NP_079485.1:n.153+719C>T
NR_104159.1:n.457-421C>T
NR_104160.1:n.457-482C>T
XM_006717510.1:c.3+32447C>T XP_006717573.1:n.3+32447C>T
XM_011519712.1:c.153+719C>T XP_011518014.1:n.153+719C>T
XR_428649.2:n.440+719C>T
XM_006717510.2:c.3+32447C>T XP_006717573.1:n.3+32447C>T
XR_001747214.1:n.440+719C>T
XR_001747215.1:n.440+719C>T
NM_001272004.2:c.153+719C>T NP_001258933.1:n.153+719C>T
NM_001272019.3:c.-8+890C>T NP_001258948.1:n.-8+890C>T
NM_001282391.2:c.3+32447C>T NP_001269320.1:n.3+32447C>T
NM_025209.4:c.153+719C>T NP_079485.1:n.153+719C>T
NR_104159.2:n.397-421C>T
NR_104160.2:n.397-482C>T
NM_001272004.3:c.153+719C>T MANE Select NP_001258933.1:n.153+719C>T
NM_001272019.4:c.-8+890C>T NP_001258948.1:n.-8+890C>T
NM_001282391.3:c.3+32447C>T NP_001269320.1:n.3+32447C>T
NM_001382753.1:c.153+719C>T NP_001369682.1:n.153+719C>T
NM_001382754.1:c.3+32447C>T NP_001369683.1:n.3+32447C>T
NM_001382755.1:c.153+719C>T NP_001369684.1:n.153+719C>T
NM_001382756.1:c.153+719C>T NP_001369685.1:n.153+719C>T
NM_025209.5:c.153+719C>T NP_079485.1:n.153+719C>T
NR_168506.1:n.280-482C>T
NR_168507.1:n.280-421C>T
NR_168508.1:n.279+32447C>T
NR_168509.1:n.396+719C>T
NR_168510.1:n.396+719C>T
NR_168511.1:n.396+719C>T