Canonical Allele Identifier: CA7498263

Gene: MAPKBP1

Linked Data

• dbSNP Id: rs773209717
• ExAC: 15:42111801 C / T
• gnomAD v2: 15-42111801-C-T
• gnomAD v4: 15-41819603-C-T
• COSMIC: COSM84284 ; COSM3501136
• MyVariant Identifiers: chr15:g.42111801C>T (hg19) ; chr15:g.41819603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41819603C>T , CM000677.2:g.41819603C>T	GRCh38
NC_000015.9:g.42111801C>T , CM000677.1:g.42111801C>T	GRCh37
NC_000015.8:g.39899093C>T	NCBI36
NG_054745.1:g.50170C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457542.7:c.2434C>T MANE Select	ENSP00000397570.2:p.Pro812Ser
ENST00000456763.6:c.2452C>T	ENSP00000393099.2:p.Pro818Ser
ENST00000457542.6:c.2434C>T	ENSP00000397570.2:p.Pro812Ser
ENST00000505061.5:n.3097C>T
ENST00000505373.5:c.*1985C>T	ENSP00000421891.1:n.*1985C>T
ENST00000512970.5:c.*1248C>T	ENSP00000427582.1:n.*1248C>T
ENST00000514566.5:c.2434C>T	ENSP00000426154.1:p.Pro812Ser
NM_001128608.1:c.2452C>T	NP_001122080.1:p.Pro818Ser
NM_001265611.1:c.2434C>T	NP_001252540.1:p.Pro812Ser
NM_014994.2:c.2434C>T	NP_055809.2:p.Pro812Ser
NR_049761.1:n.2530C>T
NR_049762.1:n.2481C>T
XM_006720438.1:c.2287C>T	XP_006720501.1:p.Pro763Ser
XM_006720439.2:c.703C>T	XP_006720502.1:p.Pro235Ser
XM_011521382.1:c.2452C>T	XP_011519684.1:p.Pro818Ser
XM_011521383.1:c.2305C>T	XP_011519685.1:p.Pro769Ser
XM_011521384.1:c.2452C>T	XP_011519686.1:p.Pro818Ser
XM_011521385.1:c.2452C>T	XP_011519687.1:p.Pro818Ser
XM_006720438.2:c.2287C>T	XP_006720501.1:p.Pro763Ser
XM_011521383.2:c.2305C>T	XP_011519685.1:p.Pro769Ser
XM_011521384.3:c.2452C>T	XP_011519686.1:p.Pro818Ser
XM_017022017.1:c.2305C>T	XP_016877506.1:p.Pro769Ser
XR_001751156.2:n.2700C>T
XR_001751157.2:n.2700C>T
XR_001751159.2:n.2700C>T
NM_014994.3:c.2434C>T MANE Select	NP_055809.2:p.Pro812Ser
NM_001128608.2:c.2452C>T	NP_001122080.1:p.Pro818Ser
NM_001265611.2:c.2434C>T	NP_001252540.1:p.Pro812Ser
NR_049761.2:n.2480C>T
NR_049762.2:n.2431C>T