Canonical Allele Identifier: CA414715131
Community Standard Title: NM_021796.4(PLAC1):c.142G>T (p.Val48Leu)
Gene: PLAC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134566541C>A , CM000685.2:g.134566541C>A GRCh38
NC_000023.10:g.133700571C>A , CM000685.1:g.133700571C>A GRCh37
NC_000023.9:g.133528237C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021796.4:c.142G>T MANE Select NP_068568.1:p.Val48Leu
ENST00000359237.9:c.142G>T MANE Select ENSP00000352173.4:p.Val48Leu
NM_001316887.1:c.142G>T NP_001303816.1:p.Val48Leu
NM_001316887.2:c.142G>T NP_001303816.1:p.Val48Leu
NM_001316888.1:c.142G>T NP_001303817.1:p.Val48Leu
NM_001316888.2:c.142G>T NP_001303817.1:p.Val48Leu
NM_001316889.1:c.142G>T NP_001303818.1:p.Val48Leu
NM_001316889.2:c.142G>T NP_001303818.1:p.Val48Leu
NM_021796.3:c.142G>T NP_068568.1:p.Val48Leu
ENST00000359237.8:c.142G>T ENSP00000352173.4:p.Val48Leu
ENST00000473897.1:n.302G>T
ENST00000476971.5:n.474G>T
XM_011531257.1:c.142G>T XP_011529559.1:p.Val48Leu
XM_011531257.2:c.142G>T XP_011529559.1:p.Val48Leu
XM_011531258.1:c.142G>T XP_011529560.1:p.Val48Leu
XM_011531259.1:c.142G>T XP_011529561.1:p.Val48Leu
XM_011531260.1:c.142G>T XP_011529562.1:p.Val48Leu
XM_011531260.2:c.142G>T XP_011529562.1:p.Val48Leu
XM_011531261.1:c.142G>T XP_011529563.1:p.Val48Leu
XM_011531263.1:c.142G>T XP_011529565.1:p.Val48Leu
XM_017029236.1:c.142G>T XP_016884725.1:p.Val48Leu