Canonical Allele Identifier: CA14495459

Gene: PPP1R1B

Linked Data

• dbSNP Id: rs3764352
• gnomAD v2: 17-37790939-C-T
• gnomAD v3: 17-39634686-C-T
• gnomAD v4: 17-39634686-C-T
• MyVariant Identifiers: chr17:g.37790939C>T (hg19) ; chr17:g.39634686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39634686C>T , CM000679.2:g.39634686C>T	GRCh38
NC_000017.10:g.37790939C>T , CM000679.1:g.37790939C>T	GRCh37
NC_000017.9:g.35044465C>T	NCBI36
NG_030330.1:g.12763C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254079.9:c.445+600C>T MANE Select	ENSP00000254079.4:n.445+600C>T
ENST00000254079.8:c.445+600C>T	ENSP00000254079.4:n.445+600C>T
ENST00000394265.5:c.337+600C>T	ENSP00000377808.1:n.337+600C>T
ENST00000394267.2:c.337+600C>T	ENSP00000377810.2:n.337+600C>T
ENST00000492037.5:n.362+600C>T
ENST00000579000.5:c.346+600C>T	ENSP00000462841.1:n.346+600C>T
ENST00000580029.1:n.1949+600C>T
ENST00000580825.5:c.445+600C>T	ENSP00000462137.1:n.445+600C>T
ENST00000583446.5:n.469+600C>T
NM_001242464.1:c.337+600C>T	NP_001229393.1:n.337+600C>T
NM_032192.3:c.445+600C>T	NP_115568.2:n.445+600C>T
NM_181505.3:c.337+600C>T	NP_852606.1:n.337+600C>T
XM_006722137.2:c.445+600C>T	XP_006722200.1:n.445+600C>T
XM_017025216.2:c.445+600C>T	XP_016880705.1:n.445+600C>T
XM_017025217.2:c.337+600C>T	XP_016880706.1:n.337+600C>T
NM_032192.4:c.445+600C>T MANE Select	NP_115568.2:n.445+600C>T
NM_001242464.2:c.337+600C>T	NP_001229393.1:n.337+600C>T
NM_181505.4:c.337+600C>T	NP_852606.1:n.337+600C>T