Canonical Allele Identifier: CA10646890
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315740
ClinVar RCV Id: RCV000402754 RCV001642983
dbSNP Id: rs16966842
gnomAD v2: 15-38644113-T-C
gnomAD v3: 15-38351912-T-C
gnomAD v4: 15-38351912-T-C
MyVariant Identifiers: chr15:g.38644113T>C (hg19) chr15:g.38351912T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351912T>C , CM000677.2:g.38351912T>C GRCh38
NC_000015.9:g.38644113T>C , CM000677.1:g.38644113T>C GRCh37
NC_000015.8:g.36431405T>C NCBI36
NG_008980.1:g.104062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*248T>C MANE Select ENSP00000299084.4:n.*248T>C
ENST00000299084.8:c.*248T>C ENSP00000299084.4:n.*248T>C
NM_152594.2:c.*248T>C NP_689807.1:n.*248T>C
XM_005254202.2:c.*248T>C XP_005254259.1:n.*248T>C
XM_005254203.3:c.*248T>C XP_005254260.1:n.*248T>C
XM_011521288.1:c.*248T>C XP_011519590.1:n.*248T>C
XM_011521289.1:c.*248T>C XP_011519591.1:n.*248T>C
XM_011521290.1:c.*248T>C XP_011519592.1:n.*248T>C
XM_005254202.3:c.*248T>C XP_005254259.1:n.*248T>C
XM_011521289.3:c.*248T>C XP_011519591.1:n.*248T>C
NM_152594.3:c.*248T>C MANE Select NP_689807.1:n.*248T>C
Search 100 bp 5'
Search 100 bp 3'