Canonical Allele Identifier: CA407462176

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308725-G-T
• MyVariant Identifiers: chr19:g.55820093G>T (hg19) ; chr19:g.55308725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308725G>T , CM000681.2:g.55308725G>T	GRCh38
NC_000019.9:g.55820093G>T , CM000681.1:g.55820093G>T	GRCh37
NC_000019.8:g.60511905G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2176G>T MANE Select	ENSP00000310649.1:p.Ala726Ser
ENST00000309383.5:c.2176G>T	ENSP00000310649.1:p.Ala726Ser
ENST00000326848.7:c.1261G>T	ENSP00000320853.7:p.Ala421Ser
ENST00000590333.5:c.2224G>T	ENSP00000468190.1:p.Ala742Ser
NM_032430.1:c.2176G>T	NP_115806.1:p.Ala726Ser
XM_005259327.2:c.1906G>T	XP_005259384.1:p.Ala636Ser
XM_011527395.1:c.1933G>T	XP_011525697.1:p.Ala645Ser
XR_430213.2:n.2159G>T
XM_005259327.3:c.1906G>T	XP_005259384.1:p.Ala636Ser
XM_011527395.2:c.1648G>T	XP_011525697.2:p.Ala550Ser
XM_024451739.1:c.1951G>T	XP_024307507.1:p.Ala651Ser
XR_430213.4:n.2457G>T
NM_032430.2:c.2176G>T MANE Select	NP_115806.1:p.Ala726Ser