Canonical Allele Identifier: CA407462062

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820070A>C (hg19) ; chr19:g.55308702A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308702A>C , CM000681.2:g.55308702A>C	GRCh38
NC_000019.9:g.55820070A>C , CM000681.1:g.55820070A>C	GRCh37
NC_000019.8:g.60511882A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2153A>C MANE Select	ENSP00000310649.1:p.Asp718Ala
ENST00000309383.5:c.2153A>C	ENSP00000310649.1:p.Asp718Ala
ENST00000326848.7:c.1238A>C	ENSP00000320853.7:p.Asp413Ala
ENST00000590333.5:c.2201A>C	ENSP00000468190.1:p.Asp734Ala
NM_032430.1:c.2153A>C	NP_115806.1:p.Asp718Ala
XM_005259327.2:c.1883A>C	XP_005259384.1:p.Asp628Ala
XM_011527395.1:c.1910A>C	XP_011525697.1:p.Asp637Ala
XR_430213.2:n.2136A>C
XM_005259327.3:c.1883A>C	XP_005259384.1:p.Asp628Ala
XM_011527395.2:c.1625A>C	XP_011525697.2:p.Asp542Ala
XM_024451739.1:c.1928A>C	XP_024307507.1:p.Asp643Ala
XR_430213.4:n.2434A>C
NM_032430.2:c.2153A>C MANE Select	NP_115806.1:p.Asp718Ala