Canonical Allele Identifier: CA3273049

Gene: MAP3K1

Linked Data

• dbSNP Id: rs753604717
• ExAC: 5:56177741 C / T
• gnomAD v2: 5-56177741-C-T
• gnomAD v4: 5-56881914-C-T
• MyVariant Identifiers: chr5:g.56177741C>T (hg19) ; chr5:g.56881914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881914C>T , CM000667.2:g.56881914C>T	GRCh38
NC_000005.9:g.56177741C>T , CM000667.1:g.56177741C>T	GRCh37
NC_000005.8:g.56213498C>T	NCBI36
NG_031884.1:g.71842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2714C>T MANE Select	ENSP00000382423.3:p.Thr905Ile
ENST00000399503.3:c.2714C>T	ENSP00000382423.3:p.Thr905Ile
NM_005921.1:c.2714C>T	NP_005912.1:p.Thr905Ile
XM_005248519.3:c.2336C>T	XP_005248576.2:p.Thr779Ile
XM_011543406.1:c.2459C>T	XP_011541708.1:p.Thr820Ile
XM_011543407.1:c.2435C>T	XP_011541709.1:p.Thr812Ile
XM_011543408.1:c.2714C>T	XP_011541710.1:p.Thr905Ile
XM_017009484.1:c.2303C>T	XP_016864973.1:p.Thr768Ile
XM_017009485.1:c.2225C>T	XP_016864974.1:p.Thr742Ile
XR_001742068.2:n.2745C>T
NM_005921.2:c.2714C>T MANE Select	NP_005912.1:p.Thr905Ile