Canonical Allele Identifier: CA15369679
Gene: SPRY4 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.142321387A>G , CM000667.2:g.142321387A>G GRCh38
NC_000005.9:g.141700952A>G , CM000667.1:g.141700952A>G GRCh37
NC_000005.8:g.141681136A>G NCBI36
NG_034148.1:g.8669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434127.3:c.-48+3457T>C MANE Select ENSP00000399468.2:n.-48+3457T>C
ENST00000344120.4:c.-29-1593T>C ENSP00000344967.4:n.-29-1593T>C
ENST00000434127.2:c.-48+3457T>C ENSP00000399468.2:n.-48+3457T>C
ENST00000503582.1:n.528+2503T>C
ENST00000511815.1:c.-109-1593T>C ENSP00000424411.1:n.-109-1593T>C
NM_001127496.1:c.-48+3457T>C NP_001120968.1:n.-48+3457T>C
NM_001293289.1:c.-109-1593T>C NP_001280218.1:n.-109-1593T>C
NM_001293290.1:c.-48+2503T>C NP_001280219.1:n.-48+2503T>C
NM_030964.3:c.-29-1593T>C NP_112226.2:n.-29-1593T>C
XM_011537685.1:c.-29-1593T>C XP_011535987.1:n.-29-1593T>C
XM_011537685.3:c.-29-1593T>C XP_011535987.1:n.-29-1593T>C
NM_001127496.2:c.-48+3457T>C NP_001120968.1:n.-48+3457T>C
NM_001293289.2:c.-109-1593T>C NP_001280218.1:n.-109-1593T>C
NM_001293290.2:c.-48+2503T>C NP_001280219.1:n.-48+2503T>C
NM_030964.4:c.-29-1593T>C NP_112226.2:n.-29-1593T>C
NM_001127496.3:c.-48+3457T>C MANE Select NP_001120968.1:n.-48+3457T>C
NM_001293289.3:c.-109-1593T>C NP_001280218.1:n.-109-1593T>C
NM_001293290.3:c.-48+2503T>C NP_001280219.1:n.-48+2503T>C
NM_030964.5:c.-29-1593T>C NP_112226.2:n.-29-1593T>C