Canonical Allele Identifier: CA128844969

Gene: SPRY4

Linked Data

• dbSNP Id: rs553491984
• gnomAD v2: 5-141693841-G-A
• gnomAD v4: 5-142314276-G-A
• MyVariant Identifiers: chr5:g.141693841G>A (hg19) ; chr5:g.142314276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.142314276G>A , CM000667.2:g.142314276G>A	GRCh38
NC_000005.9:g.141693841G>A , CM000667.1:g.141693841G>A	GRCh37
NC_000005.8:g.141674025G>A	NCBI36
NG_034148.1:g.15780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434127.3:c.833C>T MANE Select	ENSP00000399468.2:p.Thr278Met
ENST00000643792.1:n.1515C>T
ENST00000344120.4:c.902C>T	ENSP00000344967.4:p.Thr301Met
ENST00000434127.2:c.833C>T	ENSP00000399468.2:p.Thr278Met
NM_001127496.1:c.833C>T	NP_001120968.1:p.Thr278Met
NM_001293289.1:c.833C>T	NP_001280218.1:p.Thr278Met
NM_001293290.1:c.833C>T	NP_001280219.1:p.Thr278Met
NM_030964.3:c.902C>T	NP_112226.2:p.Thr301Met
XM_011537685.1:c.902C>T	XP_011535987.1:p.Thr301Met
XM_011537685.3:c.902C>T	XP_011535987.1:p.Thr301Met
XM_017009910.2:c.833C>T	XP_016865399.1:p.Thr278Met
NM_001127496.2:c.833C>T	NP_001120968.1:p.Thr278Met
NM_001293289.2:c.833C>T	NP_001280218.1:p.Thr278Met
NM_001293290.2:c.833C>T	NP_001280219.1:p.Thr278Met
NM_030964.4:c.902C>T	NP_112226.2:p.Thr301Met
NM_001127496.3:c.833C>T MANE Select	NP_001120968.1:p.Thr278Met
NM_001293289.3:c.833C>T	NP_001280218.1:p.Thr278Met
NM_001293290.3:c.833C>T	NP_001280219.1:p.Thr278Met
NM_030964.5:c.902C>T	NP_112226.2:p.Thr301Met