Canonical Allele Identifier: CA12155123

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52789009C>T , CM000667.2:g.52789009C>T GRCh38
NC_000005.9:g.52084843C>T , CM000667.1:g.52084843C>T GRCh37
NC_000005.8:g.52120600C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274311.3:c.-511+595C>T (PELO) MANE Select ENSP00000274311.2:n.-511+595C>T
ENST00000282588.7:c.61+595C>T (ITGA1) MANE Select ENSP00000282588.5:n.61+595C>T
ENST00000650673.1:c.61+595C>T (ITGA1) ENSP00000498529.1:n.61+595C>T
ENST00000274311.2:c.-511+595C>T (PELO) ENSP00000274311.2:n.-511+595C>T
ENST00000282588.6:c.61+595C>T (ITGA1) ENSP00000282588.5:n.61+595C>T
ENST00000504086.1:n.468+595C>T (ITGA1)
ENST00000506949.1:n.462+595C>T (PELO)
NM_015946.4:c.-511+595C>T (PELO) NP_057030.3:n.-511+595C>T
NM_181501.1:c.61+595C>T (ITGA1) NP_852478.1:n.61+595C>T
NM_015946.5:c.-511+595C>T (PELO) MANE Select NP_057030.3:n.-511+595C>T
NM_181501.2:c.61+595C>T (ITGA1) MANE Select NP_852478.1:n.61+595C>T