Canonical Allele Identifier: CA388968024

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321720-C-A
• MyVariant Identifiers: chr14:g.23790929C>A (hg19) ; chr14:g.23321720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321720C>A , CM000676.2:g.23321720C>A	GRCh38
NC_000014.8:g.23790929C>A , CM000676.1:g.23790929C>A	GRCh37
NC_000014.7:g.22860769C>A	NCBI36
NG_008239.1:g.6533C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.251C>A (PABPN1) MANE Select	ENSP00000216727.4:p.Pro84Gln
ENST00000678502.1:c.529-461C>A (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-461C>A
ENST00000216727.8:c.251C>A (PABPN1)	ENSP00000216727.4:p.Pro84Gln
ENST00000397276.6:c.251C>A (PABPN1)	ENSP00000380446.2:p.Pro84Gln
ENST00000553781.5:c.433-461C>A (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-461C>A
ENST00000556821.5:c.-494C>A (PABPN1)	ENSP00000451970.1:n.-494C>A
ENST00000557008.2:c.433-461C>A (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-461C>A
NM_001199864.1:c.433-461C>A (BCL2L2-PABPN1)	NP_001186793.1:n.433-461C>A
NM_004643.3:c.251C>A (PABPN1)	NP_004634.1:p.Pro84Gln
NM_001360551.1:c.251C>A (PABPN1)	NP_001347480.1:p.Pro84Gln
NM_001199864.2:c.433-461C>A (BCL2L2-PABPN1)	NP_001186793.2:n.433-461C>A
NM_001360551.2:c.251C>A (PABPN1)	NP_001347480.1:p.Pro84Gln
NM_001199864.3:c.433-461C>A (BCL2L2-PABPN1)	NP_001186793.2:n.433-461C>A
NM_001360551.3:c.251C>A (PABPN1)	NP_001347480.1:p.Pro84Gln
NM_001387340.1:c.550-461C>A (BCL2L2-PABPN1)	NP_001374269.1:n.550-461C>A
NM_001387341.1:c.529-461C>A (BCL2L2-PABPN1)	NP_001374270.1:n.529-461C>A
NM_001387342.1:c.529-461C>A (BCL2L2-PABPN1)	NP_001374271.1:n.529-461C>A
NM_001387343.1:c.529-461C>A (BCL2L2-PABPN1)	NP_001374272.1:n.529-461C>A
NM_001387344.1:c.529-461C>A (BCL2L2-PABPN1)	NP_001374273.1:n.529-461C>A
NM_001387345.1:c.433-461C>A (BCL2L2-PABPN1)	NP_001374274.1:n.433-461C>A
NM_001387346.1:c.433-461C>A (BCL2L2-PABPN1)	NP_001374275.1:n.433-461C>A
NM_004643.4:c.251C>A (PABPN1) MANE Select	NP_004634.1:p.Pro84Gln