Canonical Allele Identifier: CA15942315
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1172822

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308477C>T , CM000681.2:g.55308477C>T GRCh38
NC_000019.9:g.55819845C>T , CM000681.1:g.55819845C>T GRCh37
NC_000019.8:g.60511657C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000309383.6:c.2090-162C>T MANE Select ENSP00000310649.1:n.2090-162C>T
ENST00000309383.5:c.2090-162C>T ENSP00000310649.1:n.2090-162C>T
ENST00000326848.7:c.1175-162C>T ENSP00000320853.7:n.1175-162C>T
ENST00000590333.5:c.2138-162C>T ENSP00000468190.1:n.2138-162C>T
NM_032430.1:c.2090-162C>T NP_115806.1:n.2090-162C>T
XM_005259327.2:c.1820-162C>T XP_005259384.1:n.1820-162C>T
XM_011527395.1:c.1847-162C>T XP_011525697.1:n.1847-162C>T
XR_430213.2:n.2073-162C>T
XM_005259327.3:c.1820-162C>T XP_005259384.1:n.1820-162C>T
XM_011527395.2:c.1562-162C>T XP_011525697.2:n.1562-162C>T
XM_024451739.1:c.1865-162C>T XP_024307507.1:n.1865-162C>T
XR_430213.4:n.2371-162C>T
NM_032430.2:c.2090-162C>T MANE Select NP_115806.1:n.2090-162C>T