Canonical Allele Identifier: CA388967883
Gene: PABPN1 HGNC NCBI
BCL2L2-PABPN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3207851
ClinVar RCV Id: RCV004497693
dbSNP Id: rs1421817437
gnomAD v4: 14-23321695-C-T
MyVariant Identifiers: chr14:g.23790904C>T (hg19) chr14:g.23321695C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321695C>T , CM000676.2:g.23321695C>T GRCh38
NC_000014.8:g.23790904C>T , CM000676.1:g.23790904C>T GRCh37
NC_000014.7:g.22860744C>T NCBI36
NG_008239.1:g.6508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216727.9:c.226C>T (PABPN1) MANE Select ENSP00000216727.4:p.Arg76Trp
ENST00000678502.1:c.529-486C>T (BCL2L2-PABPN1) ENSP00000503309.1:n.529-486C>T
ENST00000216727.8:c.226C>T (PABPN1) ENSP00000216727.4:p.Arg76Trp
ENST00000397276.6:c.226C>T (PABPN1) ENSP00000380446.2:p.Arg76Trp
ENST00000553781.5:c.433-486C>T (BCL2L2-PABPN1) ENSP00000451320.1:n.433-486C>T
ENST00000556821.5:c.-519C>T (PABPN1) ENSP00000451970.1:n.-519C>T
ENST00000557008.2:c.433-486C>T (BCL2L2-PABPN1) ENSP00000452479.1:n.433-486C>T
NM_001199864.1:c.433-486C>T (BCL2L2-PABPN1) NP_001186793.1:n.433-486C>T
NM_004643.3:c.226C>T (PABPN1) NP_004634.1:p.Arg76Trp
NM_001360551.1:c.226C>T (PABPN1) NP_001347480.1:p.Arg76Trp
NM_001199864.2:c.433-486C>T (BCL2L2-PABPN1) NP_001186793.2:n.433-486C>T
NM_001360551.2:c.226C>T (PABPN1) NP_001347480.1:p.Arg76Trp
NM_001199864.3:c.433-486C>T (BCL2L2-PABPN1) NP_001186793.2:n.433-486C>T
NM_001360551.3:c.226C>T (PABPN1) NP_001347480.1:p.Arg76Trp
NM_001387340.1:c.550-486C>T (BCL2L2-PABPN1) NP_001374269.1:n.550-486C>T
NM_001387341.1:c.529-486C>T (BCL2L2-PABPN1) NP_001374270.1:n.529-486C>T
NM_001387342.1:c.529-486C>T (BCL2L2-PABPN1) NP_001374271.1:n.529-486C>T
NM_001387343.1:c.529-486C>T (BCL2L2-PABPN1) NP_001374272.1:n.529-486C>T
NM_001387344.1:c.529-486C>T (BCL2L2-PABPN1) NP_001374273.1:n.529-486C>T
NM_001387345.1:c.433-486C>T (BCL2L2-PABPN1) NP_001374274.1:n.433-486C>T
NM_001387346.1:c.433-486C>T (BCL2L2-PABPN1) NP_001374275.1:n.433-486C>T
NM_004643.4:c.226C>T (PABPN1) MANE Select NP_004634.1:p.Arg76Trp
Search 100 bp 5'
Search 100 bp 3'