Canonical Allele Identifier: CA444398794

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1212914982
• gnomAD v2: 5-56171038-T-C
• gnomAD v3: 5-56875211-T-C
• gnomAD v4: 5-56875211-T-C
• MyVariant Identifiers: chr5:g.56171038T>C (hg19) ; chr5:g.56875211T>C (hg38)
• PubMed: PMID:24463507

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875211T>C , CM000667.2:g.56875211T>C	GRCh38
NC_000005.9:g.56171038T>C , CM000667.1:g.56171038T>C	GRCh37
NC_000005.8:g.56206795T>C	NCBI36
NG_031884.1:g.65139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1866T>C MANE Select	ENSP00000382423.3:p.Ser622=
ENST00000399503.3:c.1866T>C	ENSP00000382423.3:p.Ser622=
NM_005921.1:c.1866T>C	NP_005912.1:p.Ser622=
XM_005248519.3:c.1488T>C	XP_005248576.2:p.Ser496=
XM_011543406.1:c.1611T>C	XP_011541708.1:p.Ser537=
XM_011543407.1:c.1686+2206T>C	XP_011541709.1:n.1686+2206T>C
XM_011543408.1:c.1866T>C	XP_011541710.1:p.Ser622=
XM_017009484.1:c.1455T>C	XP_016864973.1:p.Ser485=
XM_017009485.1:c.1377T>C	XP_016864974.1:p.Ser459=
XR_001742068.2:n.1897T>C
NM_005921.2:c.1866T>C MANE Select	NP_005912.1:p.Ser622=