Canonical Allele Identifier: CA444399204

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881879-T-C
• MyVariant Identifiers: chr5:g.56177706T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881879T>C , CM000667.2:g.56881879T>C	GRCh38
NC_000005.9:g.56177706T>C , CM000667.1:g.56177706T>C	GRCh37
NC_000005.8:g.56213463T>C	NCBI36
NG_031884.1:g.71807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2679T>C MANE Select	ENSP00000382423.3:p.Tyr893=
ENST00000399503.3:c.2679T>C	ENSP00000382423.3:p.Tyr893=
NM_005921.1:c.2679T>C	NP_005912.1:p.Tyr893=
XM_005248519.3:c.2301T>C	XP_005248576.2:p.Tyr767=
XM_011543406.1:c.2424T>C	XP_011541708.1:p.Tyr808=
XM_011543407.1:c.2400T>C	XP_011541709.1:p.Tyr800=
XM_011543408.1:c.2679T>C	XP_011541710.1:p.Tyr893=
XM_017009484.1:c.2268T>C	XP_016864973.1:p.Tyr756=
XM_017009485.1:c.2190T>C	XP_016864974.1:p.Tyr730=
XR_001742068.2:n.2710T>C
NM_005921.2:c.2679T>C MANE Select	NP_005912.1:p.Tyr893=