Canonical Allele Identifier: CA392939103

Gene: MAP2K1 SNAPC5

Linked Data

• ClinVar Variation Id: 2319773
• ClinVar RCV Id: RCV004164178
• MyVariant Identifiers: chr15:g.66782917C>A (hg19) ; chr15:g.66490579C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490579C>A , CM000677.2:g.66490579C>A	GRCh38
NC_000015.9:g.66782917C>A , CM000677.1:g.66782917C>A	GRCh37
NC_000015.8:g.64569971C>A	NCBI36
NG_008305.1:g.108707C>A , LRG_725:g.108707C>A
NG_051234.1:g.12237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*194C>A (MAP2K1)	ENSP00000508681.1:n.*194C>A
ENST00000685172.1:c.1100C>A (MAP2K1)	ENSP00000509604.1:p.Thr367Asn
ENST00000685763.1:c.999C>A (MAP2K1)	ENSP00000509016.1:p.Asn333Lys
ENST00000686347.1:c.819C>A (MAP2K1)	ENSP00000509027.1:p.Asn273Lys
ENST00000687191.1:n.3426C>A (MAP2K1)
ENST00000687481.1:n.561C>A (MAP2K1)
ENST00000688689.1:n.901C>A (MAP2K1)
ENST00000689951.1:c.1197C>A (MAP2K1)	ENSP00000509308.1:p.Asn399Lys
ENST00000691077.1:c.*2305C>A (MAP2K1)	ENSP00000509843.1:n.*2305C>A
ENST00000691576.1:c.1017C>A (MAP2K1)	ENSP00000510066.1:p.Asn339Lys
ENST00000691937.1:c.*127C>A (MAP2K1)	ENSP00000508768.1:n.*127C>A
ENST00000692487.1:c.*2746C>A (MAP2K1)	ENSP00000509534.1:n.*2746C>A
ENST00000692683.1:c.1080C>A (MAP2K1)	ENSP00000508437.1:p.Asn360Lys
ENST00000693150.1:c.1002C>A (MAP2K1)	ENSP00000510309.1:p.Asn334Lys
ENST00000307102.10:c.1146C>A (MAP2K1) MANE Select	ENSP00000302486.5:p.Asn382Lys
ENST00000307102.9:c.1146C>A (MAP2K1)	ENSP00000302486.4:p.Asn382Lys
ENST00000395589.6:c.*160G>T (SNAPC5)	ENSP00000378954.2:n.*160G>T
ENST00000563480.6:c.*160G>T (SNAPC5)	ENSP00000457892.1:n.*160G>T
ENST00000566326.1:c.618C>A (MAP2K1)	ENSP00000456438.1:p.Asn206Lys
NM_002755.3:c.1146C>A , LRG_725t1:c.1146C>A (MAP2K1)	NP_002746.1:p.Asn382Lys
NM_006049.2:c.*160G>T (SNAPC5)	NP_006040.1:n.*160G>T
XM_011521783.1:c.1080C>A (MAP2K1)	XP_011520085.1:p.Asn360Lys
NM_006049.3:c.*160G>T (SNAPC5)	NP_006040.1:n.*160G>T
NR_138061.1:n.679G>T (SNAPC5)
XM_011521783.3:c.1080C>A (MAP2K1)	XP_011520085.1:p.Asn360Lys
XM_017022411.2:c.1068C>A (MAP2K1)	XP_016877900.1:p.Asn356Lys
XM_017022412.1:c.1002C>A (MAP2K1)	XP_016877901.1:p.Asn334Lys
XM_017022413.1:c.618C>A (MAP2K1)	XP_016877902.1:p.Asn206Lys
NM_002755.4:c.1146C>A (MAP2K1) MANE Select	NP_002746.1:p.Asn382Lys
NM_006049.4:c.*160G>T (SNAPC5)	NP_006040.1:n.*160G>T
NR_138061.2:n.626G>T (SNAPC5)