Canonical Allele Identifier: CA490862024

Gene: MAP2K1 SNAPC5

Linked Data

• dbSNP Id: rs1401203201
• gnomAD v4: 15-66490525-T-C
• MyVariant Identifiers: chr15:g.66782863T>C (hg19) ; chr15:g.66490525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490525T>C , CM000677.2:g.66490525T>C	GRCh38
NC_000015.9:g.66782863T>C , CM000677.1:g.66782863T>C	GRCh37
NC_000015.8:g.64569917T>C	NCBI36
NG_008305.1:g.108653T>C , LRG_725:g.108653T>C
NG_051234.1:g.12291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*140T>C (MAP2K1)	ENSP00000508681.1:n.*140T>C
ENST00000685172.1:c.1046T>C (MAP2K1)	ENSP00000509604.1:p.Leu349Pro
ENST00000685763.1:c.945T>C (MAP2K1)	ENSP00000509016.1:p.Ser315=
ENST00000686347.1:c.765T>C (MAP2K1)	ENSP00000509027.1:p.Ser255=
ENST00000687191.1:n.3372T>C (MAP2K1)
ENST00000687481.1:n.507T>C (MAP2K1)
ENST00000688689.1:n.847T>C (MAP2K1)
ENST00000689951.1:c.1143T>C (MAP2K1)	ENSP00000509308.1:p.Ser381=
ENST00000691077.1:c.*2251T>C (MAP2K1)	ENSP00000509843.1:n.*2251T>C
ENST00000691576.1:c.963T>C (MAP2K1)	ENSP00000510066.1:p.Ser321=
ENST00000691937.1:c.*73T>C (MAP2K1)	ENSP00000508768.1:n.*73T>C
ENST00000692487.1:c.*2692T>C (MAP2K1)	ENSP00000509534.1:n.*2692T>C
ENST00000692683.1:c.1026T>C (MAP2K1)	ENSP00000508437.1:p.Ser342=
ENST00000693150.1:c.948T>C (MAP2K1)	ENSP00000510309.1:p.Ser316=
ENST00000307102.10:c.1092T>C (MAP2K1) MANE Select	ENSP00000302486.5:p.Ser364=
ENST00000307102.9:c.1092T>C (MAP2K1)	ENSP00000302486.4:p.Ser364=
ENST00000395589.6:c.*214A>G (SNAPC5)	ENSP00000378954.2:n.*214A>G
ENST00000563480.6:c.*214A>G (SNAPC5)	ENSP00000457892.1:n.*214A>G
ENST00000566326.1:c.564T>C (MAP2K1)	ENSP00000456438.1:p.Ser188=
NM_002755.3:c.1092T>C , LRG_725t1:c.1092T>C (MAP2K1)	NP_002746.1:p.Ser364=
NM_006049.2:c.*214A>G (SNAPC5)	NP_006040.1:n.*214A>G
XM_011521783.1:c.1026T>C (MAP2K1)	XP_011520085.1:p.Ser342=
NM_006049.3:c.*214A>G (SNAPC5)	NP_006040.1:n.*214A>G
NR_138061.1:n.733A>G (SNAPC5)
XM_011521783.3:c.1026T>C (MAP2K1)	XP_011520085.1:p.Ser342=
XM_017022411.2:c.1014T>C (MAP2K1)	XP_016877900.1:p.Ser338=
XM_017022412.1:c.948T>C (MAP2K1)	XP_016877901.1:p.Ser316=
XM_017022413.1:c.564T>C (MAP2K1)	XP_016877902.1:p.Ser188=
NM_002755.4:c.1092T>C (MAP2K1) MANE Select	NP_002746.1:p.Ser364=
NM_006049.4:c.*214A>G (SNAPC5)	NP_006040.1:n.*214A>G
NR_138061.2:n.680A>G (SNAPC5)