Canonical Allele Identifier: CA407461981

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820054C>T (hg19) ; chr19:g.55308686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308686C>T , CM000681.2:g.55308686C>T	GRCh38
NC_000019.9:g.55820054C>T , CM000681.1:g.55820054C>T	GRCh37
NC_000019.8:g.60511866C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2137C>T MANE Select	ENSP00000310649.1:p.Leu713Phe
ENST00000309383.5:c.2137C>T	ENSP00000310649.1:p.Leu713Phe
ENST00000326848.7:c.1222C>T	ENSP00000320853.7:p.Leu408Phe
ENST00000590333.5:c.2185C>T	ENSP00000468190.1:p.Leu729Phe
NM_032430.1:c.2137C>T	NP_115806.1:p.Leu713Phe
XM_005259327.2:c.1867C>T	XP_005259384.1:p.Leu623Phe
XM_011527395.1:c.1894C>T	XP_011525697.1:p.Leu632Phe
XR_430213.2:n.2120C>T
XM_005259327.3:c.1867C>T	XP_005259384.1:p.Leu623Phe
XM_011527395.2:c.1609C>T	XP_011525697.2:p.Leu537Phe
XM_024451739.1:c.1912C>T	XP_024307507.1:p.Leu638Phe
XR_430213.4:n.2418C>T
NM_032430.2:c.2137C>T MANE Select	NP_115806.1:p.Leu713Phe