Canonical Allele Identifier: CA2838202688

Gene: PLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28631422G>T , CM000664.2:g.28631422G>T	GRCh38
NC_000002.11:g.28854289G>T , CM000664.1:g.28854289G>T	GRCh37
NC_000002.10:g.28707793G>T	NCBI36
NG_051297.1:g.147844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327757.10:c.3898-614G>T MANE Select	ENSP00000330442.5:n.3898-614G>T
ENST00000327757.9:c.3898-614G>T	ENSP00000330442.5:n.3898-614G>T
ENST00000404858.5:c.3861-614G>T
ENST00000411743.5:c.988-614G>T
ENST00000422425.6:c.3865-614G>T	ENSP00000416440.2:n.3865-614G>T
ENST00000436775.1:c.80-614G>T
ENST00000444257.5:c.1010-614G>T	ENSP00000391810.1:n.1010-614G>T
NM_001170585.1:c.3865-614G>T	NP_001164056.1:n.3865-614G>T
NM_153021.4:c.3898-614G>T	NP_694566.4:n.3898-614G>T
XM_011532579.1:c.3958-614G>T	XP_011530881.1:n.3958-614G>T
XM_011532580.1:c.3931-614G>T	XP_011530882.1:n.3931-614G>T
XM_011532581.1:c.3925-614G>T	XP_011530883.1:n.3925-614G>T
XM_011532582.1:c.3958-614G>T	XP_011530884.1:n.3958-614G>T
XM_011532583.1:c.3958-614G>T	XP_011530885.1:n.3958-614G>T
XM_011532584.1:c.3958-614G>T	XP_011530886.1:n.3958-614G>T
XM_011532585.1:c.3958-614G>T	XP_011530887.1:n.3958-614G>T
XM_011532586.1:c.3862-614G>T	XP_011530888.1:n.3862-614G>T
XM_011532587.1:c.3958-614G>T	XP_011530889.1:n.3958-614G>T
XM_011532588.1:c.3958-614G>T	XP_011530890.1:n.3958-614G>T
XM_011532589.1:c.3958-614G>T	XP_011530891.1:n.3958-614G>T
XM_011532590.1:c.3958-614G>T	XP_011530892.1:n.3958-614G>T
XM_011532591.1:c.3958-614G>T	XP_011530893.1:n.3958-614G>T
XM_011532592.1:c.3775-614G>T	XP_011530894.1:n.3775-614G>T
XM_011532593.1:c.3778-614G>T	XP_011530895.1:n.3778-614G>T
XM_011532600.1:c.3154-614G>T	XP_011530902.1:n.3154-614G>T
XM_011532601.1:c.3013-614G>T	XP_011530903.1:n.3013-614G>T
XM_011532602.1:c.2962-614G>T	XP_011530904.1:n.2962-614G>T
XM_011532603.1:c.2962-614G>T	XP_011530905.1:n.2962-614G>T
XM_011532605.1:c.2962-614G>T	XP_011530907.1:n.2962-614G>T
XM_011532609.1:c.2194-614G>T	XP_011530911.1:n.2194-614G>T
XM_011532610.1:c.2194-614G>T	XP_011530912.1:n.2194-614G>T
XR_939661.1:n.4114+77G>T
XR_939662.1:n.4114+77G>T
XR_939663.1:n.4106-614G>T
NR_138141.1:n.2804-614G>T
XM_011532579.2:c.3958-614G>T	XP_011530881.1:n.3958-614G>T
XM_011532581.3:c.3925-614G>T	XP_011530883.1:n.3925-614G>T
XM_011532584.3:c.3958-614G>T	XP_011530886.1:n.3958-614G>T
XM_011532588.2:c.3958-614G>T	XP_011530890.1:n.3958-614G>T
XM_011532589.2:c.3958-614G>T	XP_011530891.1:n.3958-614G>T
XM_011532590.2:c.3958-614G>T	XP_011530892.1:n.3958-614G>T
XM_011532591.3:c.3958-614G>T	XP_011530893.1:n.3958-614G>T
XM_011532593.2:c.3778-614G>T	XP_011530895.1:n.3778-614G>T
XM_011532601.3:c.3013-614G>T	XP_011530903.1:n.3013-614G>T
XM_011532602.2:c.2962-614G>T	XP_011530904.1:n.2962-614G>T
XM_011532603.2:c.2962-614G>T	XP_011530905.1:n.2962-614G>T
XM_011532609.2:c.2194-614G>T	XP_011530911.1:n.2194-614G>T
XM_011532610.2:c.2194-614G>T	XP_011530912.1:n.2194-614G>T
XM_017003432.2:c.3931-614G>T	XP_016858921.1:n.3931-614G>T
XM_017003433.2:c.3898-614G>T	XP_016858922.1:n.3898-614G>T
XM_017003434.1:c.*54G>T	XP_016858923.1:n.*54G>T
XR_001738646.2:n.4216-614G>T
XR_939663.3:n.4296-614G>T
NM_153021.5:c.3898-614G>T MANE Select	NP_694566.4:n.3898-614G>T
NM_001170585.2:c.3865-614G>T	NP_001164056.1:n.3865-614G>T
NR_138141.2:n.2804-614G>T