Canonical Allele Identifier: CA391934661
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351569G>T , CM000677.2:g.38351569G>T GRCh38
NC_000015.9:g.38643770G>T , CM000677.1:g.38643770G>T GRCh37
NC_000015.8:g.36431062G>T NCBI36
NG_008980.1:g.103719G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1240G>T MANE Select ENSP00000299084.4:p.Val414Leu
ENST00000299084.8:c.1240G>T ENSP00000299084.4:p.Val414Leu
NM_152594.2:c.1240G>T NP_689807.1:p.Val414Leu
XM_005254202.2:c.1276G>T XP_005254259.1:p.Val426Leu
XM_005254203.3:c.1018G>T XP_005254260.1:p.Val340Leu
XM_011521288.1:c.1177G>T XP_011519590.1:p.Val393Leu
XM_011521289.1:c.1177G>T XP_011519591.1:p.Val393Leu
XM_011521290.1:c.1177G>T XP_011519592.1:p.Val393Leu
XM_005254202.3:c.1276G>T XP_005254259.1:p.Val426Leu
XM_011521289.3:c.1177G>T XP_011519591.1:p.Val393Leu
NM_152594.3:c.1240G>T MANE Select NP_689807.1:p.Val414Leu