Canonical Allele Identifier: CA391932886
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349473G>T , CM000677.2:g.38349473G>T GRCh38
NC_000015.9:g.38641674G>T , CM000677.1:g.38641674G>T GRCh37
NC_000015.8:g.36428966G>T NCBI36
NG_008980.1:g.101623G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.634G>T MANE Select ENSP00000299084.4:p.Val212Leu
ENST00000299084.8:c.634G>T ENSP00000299084.4:p.Val212Leu
NM_152594.2:c.634G>T NP_689807.1:p.Val212Leu
XM_005254202.2:c.670G>T XP_005254259.1:p.Val224Leu
XM_005254203.3:c.412G>T XP_005254260.1:p.Val138Leu
XM_011521288.1:c.571G>T XP_011519590.1:p.Val191Leu
XM_011521289.1:c.571G>T XP_011519591.1:p.Val191Leu
XM_011521290.1:c.571G>T XP_011519592.1:p.Val191Leu
XM_005254202.3:c.670G>T XP_005254259.1:p.Val224Leu
XM_011521289.3:c.571G>T XP_011519591.1:p.Val191Leu
NM_152594.3:c.634G>T MANE Select NP_689807.1:p.Val212Leu