Canonical Allele Identifier: CA119520113

Gene: MAP3K1

Linked Data

• dbSNP Id: rs964002660
• gnomAD v2: 5-56155707-C-T
• gnomAD v4: 5-56859880-C-T
• MyVariant Identifiers: chr5:g.56155707C>T (hg19) ; chr5:g.56859880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859880C>T , CM000667.2:g.56859880C>T	GRCh38
NC_000005.9:g.56155707C>T , CM000667.1:g.56155707C>T	GRCh37
NC_000005.8:g.56191464C>T	NCBI36
NG_031884.1:g.49808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.799C>T MANE Select	ENSP00000382423.3:p.Pro267Ser
ENST00000399503.3:c.799C>T	ENSP00000382423.3:p.Pro267Ser
NM_005921.1:c.799C>T	NP_005912.1:p.Pro267Ser
XM_005248519.3:c.421C>T	XP_005248576.2:p.Pro141Ser
XM_011543406.1:c.544C>T	XP_011541708.1:p.Pro182Ser
XM_011543407.1:c.799C>T	XP_011541709.1:p.Pro267Ser
XM_011543408.1:c.799C>T	XP_011541710.1:p.Pro267Ser
XM_017009484.1:c.388C>T	XP_016864973.1:p.Pro130Ser
XM_017009485.1:c.310C>T	XP_016864974.1:p.Pro104Ser
XR_001742068.2:n.830C>T
NM_005921.2:c.799C>T MANE Select	NP_005912.1:p.Pro267Ser