Canonical Allele Identifier: CA684979464
Gene: CDKN1B HGNC NCBI
GPR19 HGNC NCBI

Linked Data

dbSNP Id: rs1254701169
gnomAD v3: 12-12717261-G-A
gnomAD v4: 12-12717261-G-A
MyVariant Identifiers: chr12:g.12870195G>A (hg19) chr12:g.12717261G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717261G>A , CM000674.2:g.12717261G>A GRCh38
NC_000012.11:g.12870195G>A , CM000674.1:g.12870195G>A GRCh37
NC_000012.10:g.12761462G>A NCBI36
NG_016341.1:g.4894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682620.1:n.1631-1564G>A (CDKN1B)
ENST00000684771.1:n.585-1564G>A (CDKN1B)
ENST00000228872.8:c.-579G>A (CDKN1B) ENSP00000228872.4:n.-579G>A
ENST00000477087.1:n.154+1378G>A (CDKN1B)
XM_011520623.1:c.-1755C>T (GPR19) XP_011518925.1:n.-1755C>T
XM_011520623.3:c.-1755C>T (GPR19) XP_011518925.1:n.-1755C>T
XM_017019216.2:c.-1783C>T (GPR19) XP_016874705.1:n.-1783C>T
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