Canonical Allele Identifier: CA359787712

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945833
• COSMIC: COSM4910779
• MyVariant Identifiers: chr5:g.56178151C>G (hg19) ; chr5:g.56882324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882324C>G , CM000667.2:g.56882324C>G	GRCh38
NC_000005.9:g.56178151C>G , CM000667.1:g.56178151C>G	GRCh37
NC_000005.8:g.56213908C>G	NCBI36
NG_031884.1:g.72252C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3124C>G MANE Select	ENSP00000382423.3:p.Leu1042Val
ENST00000399503.3:c.3124C>G	ENSP00000382423.3:p.Leu1042Val
NM_005921.1:c.3124C>G	NP_005912.1:p.Leu1042Val
XM_005248519.3:c.2746C>G	XP_005248576.2:p.Leu916Val
XM_011543406.1:c.2869C>G	XP_011541708.1:p.Leu957Val
XM_011543407.1:c.2845C>G	XP_011541709.1:p.Leu949Val
XM_011543408.1:c.3124C>G	XP_011541710.1:p.Leu1042Val
XM_017009484.1:c.2713C>G	XP_016864973.1:p.Leu905Val
XM_017009485.1:c.2635C>G	XP_016864974.1:p.Leu879Val
XR_001742068.2:n.3155C>G
NM_005921.2:c.3124C>G MANE Select	NP_005912.1:p.Leu1042Val