Canonical Allele Identifier: CA3273016

Gene: MAP3K1

Linked Data

• dbSNP Id: rs199798366
• ExAC: 5:56177582 T / C
• gnomAD v2: 5-56177582-T-C
• gnomAD v3: 5-56881755-T-C
• gnomAD v4: 5-56881755-T-C
• MyVariant Identifiers: chr5:g.56177582T>C (hg19) ; chr5:g.56881755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881755T>C , CM000667.2:g.56881755T>C	GRCh38
NC_000005.9:g.56177582T>C , CM000667.1:g.56177582T>C	GRCh37
NC_000005.8:g.56213339T>C	NCBI36
NG_031884.1:g.71683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2555T>C MANE Select	ENSP00000382423.3:p.Met852Thr
ENST00000399503.3:c.2555T>C	ENSP00000382423.3:p.Met852Thr
NM_005921.1:c.2555T>C	NP_005912.1:p.Met852Thr
XM_005248519.3:c.2177T>C	XP_005248576.2:p.Met726Thr
XM_011543406.1:c.2300T>C	XP_011541708.1:p.Met767Thr
XM_011543407.1:c.2276T>C	XP_011541709.1:p.Met759Thr
XM_011543408.1:c.2555T>C	XP_011541710.1:p.Met852Thr
XM_017009484.1:c.2144T>C	XP_016864973.1:p.Met715Thr
XM_017009485.1:c.2066T>C	XP_016864974.1:p.Met689Thr
XR_001742068.2:n.2586T>C
NM_005921.2:c.2555T>C MANE Select	NP_005912.1:p.Met852Thr