Canonical Allele Identifier: CA490012261
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1888487082
MyVariant Identifiers: chr15:g.38643664T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351463T>C , CM000677.2:g.38351463T>C GRCh38
NC_000015.9:g.38643664T>C , CM000677.1:g.38643664T>C GRCh37
NC_000015.8:g.36430956T>C NCBI36
NG_008980.1:g.103613T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1134T>C MANE Select ENSP00000299084.4:p.His378=
ENST00000299084.8:c.1134T>C ENSP00000299084.4:p.His378=
NM_152594.2:c.1134T>C NP_689807.1:p.His378=
XM_005254202.2:c.1170T>C XP_005254259.1:p.His390=
XM_005254203.3:c.912T>C XP_005254260.1:p.His304=
XM_011521288.1:c.1071T>C XP_011519590.1:p.His357=
XM_011521289.1:c.1071T>C XP_011519591.1:p.His357=
XM_011521290.1:c.1071T>C XP_011519592.1:p.His357=
XM_005254202.3:c.1170T>C XP_005254259.1:p.His390=
XM_011521289.3:c.1071T>C XP_011519591.1:p.His357=
NM_152594.3:c.1134T>C MANE Select NP_689807.1:p.His378=