Canonical Allele Identifier: CA359786449

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1301001671
• gnomAD v2: 5-56177732-C-T
• gnomAD v3: 5-56881905-C-T
• gnomAD v4: 5-56881905-C-T
• MyVariant Identifiers: chr5:g.56177732C>T (hg19) ; chr5:g.56881905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881905C>T , CM000667.2:g.56881905C>T	GRCh38
NC_000005.9:g.56177732C>T , CM000667.1:g.56177732C>T	GRCh37
NC_000005.8:g.56213489C>T	NCBI36
NG_031884.1:g.71833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2705C>T MANE Select	ENSP00000382423.3:p.Pro902Leu
ENST00000399503.3:c.2705C>T	ENSP00000382423.3:p.Pro902Leu
NM_005921.1:c.2705C>T	NP_005912.1:p.Pro902Leu
XM_005248519.3:c.2327C>T	XP_005248576.2:p.Pro776Leu
XM_011543406.1:c.2450C>T	XP_011541708.1:p.Pro817Leu
XM_011543407.1:c.2426C>T	XP_011541709.1:p.Pro809Leu
XM_011543408.1:c.2705C>T	XP_011541710.1:p.Pro902Leu
XM_017009484.1:c.2294C>T	XP_016864973.1:p.Pro765Leu
XM_017009485.1:c.2216C>T	XP_016864974.1:p.Pro739Leu
XR_001742068.2:n.2736C>T
NM_005921.2:c.2705C>T MANE Select	NP_005912.1:p.Pro902Leu