Canonical Allele Identifier: CA7624141

Gene: MAP2K1 SNAPC5

Linked Data

• dbSNP Id: rs773058816
• ExAC: 15:66782779 T / C
• gnomAD v2: 15-66782779-T-C
• gnomAD v4: 15-66490441-T-C
• MyVariant Identifiers: chr15:g.66782779T>C (hg19) ; chr15:g.66490441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490441T>C , CM000677.2:g.66490441T>C	GRCh38
NC_000015.9:g.66782779T>C , CM000677.1:g.66782779T>C	GRCh37
NC_000015.8:g.64569833T>C	NCBI36
NG_008305.1:g.108569T>C , LRG_725:g.108569T>C
NG_051234.1:g.12375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*117-61T>C (MAP2K1)	ENSP00000508681.1:n.*117-61T>C
ENST00000685172.1:c.1023-61T>C (MAP2K1)	ENSP00000509604.1:n.1023-61T>C
ENST00000685763.1:c.922-61T>C (MAP2K1)	ENSP00000509016.1:n.922-61T>C
ENST00000686347.1:c.742-61T>C (MAP2K1)	ENSP00000509027.1:n.742-61T>C
ENST00000687191.1:n.3349-61T>C (MAP2K1)
ENST00000687481.1:n.484-61T>C (MAP2K1)
ENST00000688689.1:n.824-61T>C (MAP2K1)
ENST00000689951.1:c.1120-61T>C (MAP2K1)	ENSP00000509308.1:n.1120-61T>C
ENST00000691077.1:c.*2228-61T>C (MAP2K1)	ENSP00000509843.1:n.*2228-61T>C
ENST00000691576.1:c.940-61T>C (MAP2K1)	ENSP00000510066.1:n.940-61T>C
ENST00000691937.1:c.*50-61T>C (MAP2K1)	ENSP00000508768.1:n.*50-61T>C
ENST00000692487.1:c.*2669-61T>C (MAP2K1)	ENSP00000509534.1:n.*2669-61T>C
ENST00000692683.1:c.1003-61T>C (MAP2K1)	ENSP00000508437.1:n.1003-61T>C
ENST00000693150.1:c.925-61T>C (MAP2K1)	ENSP00000510309.1:n.925-61T>C
ENST00000307102.10:c.1069-61T>C (MAP2K1) MANE Select	ENSP00000302486.5:n.1069-61T>C
ENST00000307102.9:c.1069-61T>C (MAP2K1)	ENSP00000302486.4:n.1069-61T>C
ENST00000395589.6:c.*298A>G (SNAPC5)	ENSP00000378954.2:n.*298A>G
ENST00000563480.6:c.*298A>G (SNAPC5)	ENSP00000457892.1:n.*298A>G
ENST00000566326.1:c.541-61T>C (MAP2K1)	ENSP00000456438.1:n.541-61T>C
NM_002755.3:c.1069-61T>C , LRG_725t1:c.1069-61T>C (MAP2K1)	NP_002746.1:n.1069-61T>C
NM_006049.2:c.*298A>G (SNAPC5)	NP_006040.1:n.*298A>G
XM_011521783.1:c.1003-61T>C (MAP2K1)	XP_011520085.1:n.1003-61T>C
NM_006049.3:c.*298A>G (SNAPC5)	NP_006040.1:n.*298A>G
NR_138061.1:n.817A>G (SNAPC5)
XM_011521783.3:c.1003-61T>C (MAP2K1)	XP_011520085.1:n.1003-61T>C
XM_017022411.2:c.991-61T>C (MAP2K1)	XP_016877900.1:n.991-61T>C
XM_017022412.1:c.925-61T>C (MAP2K1)	XP_016877901.1:n.925-61T>C
XM_017022413.1:c.541-61T>C (MAP2K1)	XP_016877902.1:n.541-61T>C
NM_002755.4:c.1069-61T>C (MAP2K1) MANE Select	NP_002746.1:n.1069-61T>C
NM_006049.4:c.*298A>G (SNAPC5)	NP_006040.1:n.*298A>G
NR_138061.2:n.764A>G (SNAPC5)