Canonical Allele Identifier: CA490012625
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1566877108
MyVariant Identifiers: chr15:g.38643797T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351596T>C , CM000677.2:g.38351596T>C GRCh38
NC_000015.9:g.38643797T>C , CM000677.1:g.38643797T>C GRCh37
NC_000015.8:g.36431089T>C NCBI36
NG_008980.1:g.103746T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1267T>C MANE Select ENSP00000299084.4:p.Leu423=
ENST00000299084.8:c.1267T>C ENSP00000299084.4:p.Leu423=
NM_152594.2:c.1267T>C NP_689807.1:p.Leu423=
XM_005254202.2:c.1303T>C XP_005254259.1:p.Leu435=
XM_005254203.3:c.1045T>C XP_005254260.1:p.Leu349=
XM_011521288.1:c.1204T>C XP_011519590.1:p.Leu402=
XM_011521289.1:c.1204T>C XP_011519591.1:p.Leu402=
XM_011521290.1:c.1204T>C XP_011519592.1:p.Leu402=
XM_005254202.3:c.1303T>C XP_005254259.1:p.Leu435=
XM_011521289.3:c.1204T>C XP_011519591.1:p.Leu402=
NM_152594.3:c.1267T>C MANE Select NP_689807.1:p.Leu423=