Canonical Allele Identifier: CA359785976

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1264752002
• gnomAD v2: 5-56177547-G-C
• MyVariant Identifiers: chr5:g.56177547G>C (hg19) ; chr5:g.56881720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881720G>C , CM000667.2:g.56881720G>C	GRCh38
NC_000005.9:g.56177547G>C , CM000667.1:g.56177547G>C	GRCh37
NC_000005.8:g.56213304G>C	NCBI36
NG_031884.1:g.71648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2520G>C MANE Select	ENSP00000382423.3:p.Met840Ile
ENST00000399503.3:c.2520G>C	ENSP00000382423.3:p.Met840Ile
NM_005921.1:c.2520G>C	NP_005912.1:p.Met840Ile
XM_005248519.3:c.2142G>C	XP_005248576.2:p.Met714Ile
XM_011543406.1:c.2265G>C	XP_011541708.1:p.Met755Ile
XM_011543407.1:c.2241G>C	XP_011541709.1:p.Met747Ile
XM_011543408.1:c.2520G>C	XP_011541710.1:p.Met840Ile
XM_017009484.1:c.2109G>C	XP_016864973.1:p.Met703Ile
XM_017009485.1:c.2031G>C	XP_016864974.1:p.Met677Ile
XR_001742068.2:n.2551G>C
NM_005921.2:c.2520G>C MANE Select	NP_005912.1:p.Met840Ile