Canonical Allele Identifier: CA359786046

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881753-G-T
• MyVariant Identifiers: chr5:g.56177580G>T (hg19) ; chr5:g.56881753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881753G>T , CM000667.2:g.56881753G>T	GRCh38
NC_000005.9:g.56177580G>T , CM000667.1:g.56177580G>T	GRCh37
NC_000005.8:g.56213337G>T	NCBI36
NG_031884.1:g.71681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2553G>T MANE Select	ENSP00000382423.3:p.Arg851Ser
ENST00000399503.3:c.2553G>T	ENSP00000382423.3:p.Arg851Ser
NM_005921.1:c.2553G>T	NP_005912.1:p.Arg851Ser
XM_005248519.3:c.2175G>T	XP_005248576.2:p.Arg725Ser
XM_011543406.1:c.2298G>T	XP_011541708.1:p.Arg766Ser
XM_011543407.1:c.2274G>T	XP_011541709.1:p.Arg758Ser
XM_011543408.1:c.2553G>T	XP_011541710.1:p.Arg851Ser
XM_017009484.1:c.2142G>T	XP_016864973.1:p.Arg714Ser
XM_017009485.1:c.2064G>T	XP_016864974.1:p.Arg688Ser
XR_001742068.2:n.2584G>T
NM_005921.2:c.2553G>T MANE Select	NP_005912.1:p.Arg851Ser