Canonical Allele Identifier: CA391933017
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351018C>T , CM000677.2:g.38351018C>T GRCh38
NC_000015.9:g.38643219C>T , CM000677.1:g.38643219C>T GRCh37
NC_000015.8:g.36430511C>T NCBI36
NG_008980.1:g.103168C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.689C>T MANE Select ENSP00000299084.4:p.Pro230Leu
ENST00000299084.8:c.689C>T ENSP00000299084.4:p.Pro230Leu
NM_152594.2:c.689C>T NP_689807.1:p.Pro230Leu
XM_005254202.2:c.725C>T XP_005254259.1:p.Pro242Leu
XM_005254203.3:c.467C>T XP_005254260.1:p.Pro156Leu
XM_011521288.1:c.626C>T XP_011519590.1:p.Pro209Leu
XM_011521289.1:c.626C>T XP_011519591.1:p.Pro209Leu
XM_011521290.1:c.626C>T XP_011519592.1:p.Pro209Leu
XM_005254202.3:c.725C>T XP_005254259.1:p.Pro242Leu
XM_011521289.3:c.626C>T XP_011519591.1:p.Pro209Leu
NM_152594.3:c.689C>T MANE Select NP_689807.1:p.Pro230Leu