Canonical Allele Identifier: CA407461740

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820007G>C (hg19) ; chr19:g.55308639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308639G>C , CM000681.2:g.55308639G>C	GRCh38
NC_000019.9:g.55820007G>C , CM000681.1:g.55820007G>C	GRCh37
NC_000019.8:g.60511819G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090G>C MANE Select	ENSP00000310649.1:p.Gly697Ala
ENST00000309383.5:c.2090G>C	ENSP00000310649.1:p.Gly697Ala
ENST00000326848.7:c.1175G>C	ENSP00000320853.7:p.Gly392Ala
ENST00000590333.5:c.2138G>C	ENSP00000468190.1:p.Gly713Ala
NM_032430.1:c.2090G>C	NP_115806.1:p.Gly697Ala
XM_005259327.2:c.1820G>C	XP_005259384.1:p.Gly607Ala
XM_011527395.1:c.1847G>C	XP_011525697.1:p.Gly616Ala
XR_430213.2:n.2073G>C
XM_005259327.3:c.1820G>C	XP_005259384.1:p.Gly607Ala
XM_011527395.2:c.1562G>C	XP_011525697.2:p.Gly521Ala
XM_024451739.1:c.1865G>C	XP_024307507.1:p.Gly622Ala
XR_430213.4:n.2371G>C
NM_032430.2:c.2090G>C MANE Select	NP_115806.1:p.Gly697Ala