Canonical Allele Identifier: CA3273042

Gene: MAP3K1

Linked Data

• dbSNP Id: rs768354073
• ExAC: 5:56177699 A / T
• gnomAD v2: 5-56177699-A-T
• gnomAD v4: 5-56881872-A-T
• MyVariant Identifiers: chr5:g.56177699A>T (hg19) ; chr5:g.56881872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881872A>T , CM000667.2:g.56881872A>T	GRCh38
NC_000005.9:g.56177699A>T , CM000667.1:g.56177699A>T	GRCh37
NC_000005.8:g.56213456A>T	NCBI36
NG_031884.1:g.71800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2672A>T MANE Select	ENSP00000382423.3:p.Asn891Ile
ENST00000399503.3:c.2672A>T	ENSP00000382423.3:p.Asn891Ile
NM_005921.1:c.2672A>T	NP_005912.1:p.Asn891Ile
XM_005248519.3:c.2294A>T	XP_005248576.2:p.Asn765Ile
XM_011543406.1:c.2417A>T	XP_011541708.1:p.Asn806Ile
XM_011543407.1:c.2393A>T	XP_011541709.1:p.Asn798Ile
XM_011543408.1:c.2672A>T	XP_011541710.1:p.Asn891Ile
XM_017009484.1:c.2261A>T	XP_016864973.1:p.Asn754Ile
XM_017009485.1:c.2183A>T	XP_016864974.1:p.Asn728Ile
XR_001742068.2:n.2703A>T
NM_005921.2:c.2672A>T MANE Select	NP_005912.1:p.Asn891Ile