Canonical Allele Identifier: CA271679145

Gene: MAP2K1 SNAPC5

Linked Data

• dbSNP Id: rs941943240
• gnomAD v4: 15-66490516-C-G
• MyVariant Identifiers: chr15:g.66782854C>G (hg19) ; chr15:g.66490516C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490516C>G , CM000677.2:g.66490516C>G	GRCh38
NC_000015.9:g.66782854C>G , CM000677.1:g.66782854C>G	GRCh37
NC_000015.8:g.64569908C>G	NCBI36
NG_008305.1:g.108644C>G , LRG_725:g.108644C>G
NG_051234.1:g.12300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*131C>G (MAP2K1)	ENSP00000508681.1:n.*131C>G
ENST00000685172.1:c.1037C>G (MAP2K1)	ENSP00000509604.1:p.Ser346Ter
ENST00000685763.1:c.936C>G (MAP2K1)	ENSP00000509016.1:p.Ile312Met
ENST00000686347.1:c.756C>G (MAP2K1)	ENSP00000509027.1:p.Ile252Met
ENST00000687191.1:n.3363C>G (MAP2K1)
ENST00000687481.1:n.498C>G (MAP2K1)
ENST00000688689.1:n.838C>G (MAP2K1)
ENST00000689951.1:c.1134C>G (MAP2K1)	ENSP00000509308.1:p.Ile378Met
ENST00000691077.1:c.*2242C>G (MAP2K1)	ENSP00000509843.1:n.*2242C>G
ENST00000691576.1:c.954C>G (MAP2K1)	ENSP00000510066.1:p.Ile318Met
ENST00000691937.1:c.*64C>G (MAP2K1)	ENSP00000508768.1:n.*64C>G
ENST00000692487.1:c.*2683C>G (MAP2K1)	ENSP00000509534.1:n.*2683C>G
ENST00000692683.1:c.1017C>G (MAP2K1)	ENSP00000508437.1:p.Ile339Met
ENST00000693150.1:c.939C>G (MAP2K1)	ENSP00000510309.1:p.Ile313Met
ENST00000307102.10:c.1083C>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Ile361Met
ENST00000307102.9:c.1083C>G (MAP2K1)	ENSP00000302486.4:p.Ile361Met
ENST00000395589.6:c.*223G>C (SNAPC5)	ENSP00000378954.2:n.*223G>C
ENST00000563480.6:c.*223G>C (SNAPC5)	ENSP00000457892.1:n.*223G>C
ENST00000566326.1:c.555C>G (MAP2K1)	ENSP00000456438.1:p.Ile185Met
NM_002755.3:c.1083C>G , LRG_725t1:c.1083C>G (MAP2K1)	NP_002746.1:p.Ile361Met
NM_006049.2:c.*223G>C (SNAPC5)	NP_006040.1:n.*223G>C
XM_011521783.1:c.1017C>G (MAP2K1)	XP_011520085.1:p.Ile339Met
NM_006049.3:c.*223G>C (SNAPC5)	NP_006040.1:n.*223G>C
NR_138061.1:n.742G>C (SNAPC5)
XM_011521783.3:c.1017C>G (MAP2K1)	XP_011520085.1:p.Ile339Met
XM_017022411.2:c.1005C>G (MAP2K1)	XP_016877900.1:p.Ile335Met
XM_017022412.1:c.939C>G (MAP2K1)	XP_016877901.1:p.Ile313Met
XM_017022413.1:c.555C>G (MAP2K1)	XP_016877902.1:p.Ile185Met
NM_002755.4:c.1083C>G (MAP2K1) MANE Select	NP_002746.1:p.Ile361Met
NM_006049.4:c.*223G>C (SNAPC5)	NP_006040.1:n.*223G>C
NR_138061.2:n.689G>C (SNAPC5)