Canonical Allele Identifier: CA9760040
Community Standard Title: NM_015192.4(PLCB1):c.1679-29C>T
Gene: PLCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8727280C>T , CM000682.2:g.8727280C>T GRCh38
NC_000020.10:g.8707927C>T , CM000682.1:g.8707927C>T GRCh37
NC_000020.9:g.8655927C>T NCBI36
NG_028168.1:g.599632C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015192.4:c.1679-29C>T MANE Select NP_056007.1:n.1679-29C>T
ENST00000338037.11:c.1679-29C>T MANE Select ENSP00000338185.6:n.1679-29C>T
NM_015192.3:c.1679-29C>T NP_056007.1:n.1679-29C>T
NM_182734.2:c.1679-29C>T NP_877398.1:n.1679-29C>T
NM_182734.3:c.1679-29C>T NP_877398.1:n.1679-29C>T
ENST00000338037.10:c.1679-29C>T ENSP00000338185.6:n.1679-29C>T
ENST00000378637.6:c.1679-29C>T ENSP00000367904.2:n.1679-29C>T
ENST00000378641.7:c.1679-29C>T ENSP00000367908.3:n.1679-29C>T
ENST00000487210.5:c.901-29C>T
ENST00000494924.2:n.831-29C>T
ENST00000612075.4:c.1439-29C>T ENSP00000479997.1:n.1439-29C>T
ENST00000617005.4:c.1439-29C>T ENSP00000477664.1:n.1439-29C>T
ENST00000625874.2:c.1376-29C>T ENSP00000486301.1:n.1376-29C>T
ENST00000626966.2:c.1376-29C>T ENSP00000487075.1:n.1376-29C>T
ENST00000635830.1:n.1750-29C>T
ENST00000636319.1:c.*1122-29C>T ENSP00000490455.1:n.*1122-29C>T
ENST00000636825.1:n.1543-29C>T
ENST00000637919.1:c.1376-29C>T ENSP00000490862.1:n.1376-29C>T
XM_011529199.1:c.1679-29C>T XP_011527501.1:n.1679-29C>T
XM_011529200.1:c.1463-29C>T XP_011527502.1:n.1463-29C>T
XM_011529201.1:c.1376-29C>T XP_011527503.1:n.1376-29C>T
XM_011529202.1:c.1679-29C>T XP_011527504.1:n.1679-29C>T