Canonical Allele Identifier: CA392938939

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490541-G-A
• MyVariant Identifiers: chr15:g.66782879G>A (hg19) ; chr15:g.66490541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490541G>A , CM000677.2:g.66490541G>A	GRCh38
NC_000015.9:g.66782879G>A , CM000677.1:g.66782879G>A	GRCh37
NC_000015.8:g.64569933G>A	NCBI36
NG_008305.1:g.108669G>A , LRG_725:g.108669G>A
NG_051234.1:g.12275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*156G>A (MAP2K1)	ENSP00000508681.1:n.*156G>A
ENST00000685172.1:c.1062G>A (MAP2K1)	ENSP00000509604.1:p.Trp354Ter
ENST00000685763.1:c.961G>A (MAP2K1)	ENSP00000509016.1:p.Asp321Asn
ENST00000686347.1:c.781G>A (MAP2K1)	ENSP00000509027.1:p.Asp261Asn
ENST00000687191.1:n.3388G>A (MAP2K1)
ENST00000687481.1:n.523G>A (MAP2K1)
ENST00000688689.1:n.863G>A (MAP2K1)
ENST00000689951.1:c.1159G>A (MAP2K1)	ENSP00000509308.1:p.Asp387Asn
ENST00000691077.1:c.*2267G>A (MAP2K1)	ENSP00000509843.1:n.*2267G>A
ENST00000691576.1:c.979G>A (MAP2K1)	ENSP00000510066.1:p.Asp327Asn
ENST00000691937.1:c.*89G>A (MAP2K1)	ENSP00000508768.1:n.*89G>A
ENST00000692487.1:c.*2708G>A (MAP2K1)	ENSP00000509534.1:n.*2708G>A
ENST00000692683.1:c.1042G>A (MAP2K1)	ENSP00000508437.1:p.Asp348Asn
ENST00000693150.1:c.964G>A (MAP2K1)	ENSP00000510309.1:p.Asp322Asn
ENST00000307102.10:c.1108G>A (MAP2K1) MANE Select	ENSP00000302486.5:p.Asp370Asn
ENST00000307102.9:c.1108G>A (MAP2K1)	ENSP00000302486.4:p.Asp370Asn
ENST00000395589.6:c.*198C>T (SNAPC5)	ENSP00000378954.2:n.*198C>T
ENST00000563480.6:c.*198C>T (SNAPC5)	ENSP00000457892.1:n.*198C>T
ENST00000566326.1:c.580G>A (MAP2K1)	ENSP00000456438.1:p.Asp194Asn
NM_002755.3:c.1108G>A , LRG_725t1:c.1108G>A (MAP2K1)	NP_002746.1:p.Asp370Asn
NM_006049.2:c.*198C>T (SNAPC5)	NP_006040.1:n.*198C>T
XM_011521783.1:c.1042G>A (MAP2K1)	XP_011520085.1:p.Asp348Asn
NM_006049.3:c.*198C>T (SNAPC5)	NP_006040.1:n.*198C>T
NR_138061.1:n.717C>T (SNAPC5)
XM_011521783.3:c.1042G>A (MAP2K1)	XP_011520085.1:p.Asp348Asn
XM_017022411.2:c.1030G>A (MAP2K1)	XP_016877900.1:p.Asp344Asn
XM_017022412.1:c.964G>A (MAP2K1)	XP_016877901.1:p.Asp322Asn
XM_017022413.1:c.580G>A (MAP2K1)	XP_016877902.1:p.Asp194Asn
NM_002755.4:c.1108G>A (MAP2K1) MANE Select	NP_002746.1:p.Asp370Asn
NM_006049.4:c.*198C>T (SNAPC5)	NP_006040.1:n.*198C>T
NR_138061.2:n.664C>T (SNAPC5)