Canonical Allele Identifier: CA359785697

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177420T>C (hg19) ; chr5:g.56881593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881593T>C , CM000667.2:g.56881593T>C	GRCh38
NC_000005.9:g.56177420T>C , CM000667.1:g.56177420T>C	GRCh37
NC_000005.8:g.56213177T>C	NCBI36
NG_031884.1:g.71521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2393T>C MANE Select	ENSP00000382423.3:p.Leu798Ser
ENST00000399503.3:c.2393T>C	ENSP00000382423.3:p.Leu798Ser
NM_005921.1:c.2393T>C	NP_005912.1:p.Leu798Ser
XM_005248519.3:c.2015T>C	XP_005248576.2:p.Leu672Ser
XM_011543406.1:c.2138T>C	XP_011541708.1:p.Leu713Ser
XM_011543407.1:c.2114T>C	XP_011541709.1:p.Leu705Ser
XM_011543408.1:c.2393T>C	XP_011541710.1:p.Leu798Ser
XM_017009484.1:c.1982T>C	XP_016864973.1:p.Leu661Ser
XM_017009485.1:c.1904T>C	XP_016864974.1:p.Leu635Ser
XR_001742068.2:n.2424T>C
NM_005921.2:c.2393T>C MANE Select	NP_005912.1:p.Leu798Ser