Canonical Allele Identifier: CA407462094

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820075C>T (hg19) ; chr19:g.55308707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308707C>T , CM000681.2:g.55308707C>T	GRCh38
NC_000019.9:g.55820075C>T , CM000681.1:g.55820075C>T	GRCh37
NC_000019.8:g.60511887C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2158C>T MANE Select	ENSP00000310649.1:p.Pro720Ser
ENST00000309383.5:c.2158C>T	ENSP00000310649.1:p.Pro720Ser
ENST00000326848.7:c.1243C>T	ENSP00000320853.7:p.Pro415Ser
ENST00000590333.5:c.2206C>T	ENSP00000468190.1:p.Pro736Ser
NM_032430.1:c.2158C>T	NP_115806.1:p.Pro720Ser
XM_005259327.2:c.1888C>T	XP_005259384.1:p.Pro630Ser
XM_011527395.1:c.1915C>T	XP_011525697.1:p.Pro639Ser
XR_430213.2:n.2141C>T
XM_005259327.3:c.1888C>T	XP_005259384.1:p.Pro630Ser
XM_011527395.2:c.1630C>T	XP_011525697.2:p.Pro544Ser
XM_024451739.1:c.1933C>T	XP_024307507.1:p.Pro645Ser
XR_430213.4:n.2439C>T
NM_032430.2:c.2158C>T MANE Select	NP_115806.1:p.Pro720Ser