Canonical Allele Identifier: CA10611022

Gene: YARS1 S100PBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32817864T>G , CM000663.2:g.32817864T>G	GRCh38
NC_000001.10:g.33283465T>G , CM000663.1:g.33283465T>G	GRCh37
NC_000001.9:g.33056052T>G	NCBI36
NG_008408.1:g.5169A>C , LRG_273:g.5169A>C
NG_031988.1:g.5423T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022753.4:c.-120+175T>G (S100PBP) MANE Select	NP_073590.2:n.-120+175T>G
ENST00000373475.10:c.-120+175T>G (S100PBP) MANE Select	ENSP00000362574.5:n.-120+175T>G
NM_001256121.1:c.-120+265T>G (S100PBP)	NP_001243050.1:n.-120+265T>G
NM_001256121.2:c.-120+265T>G (S100PBP)	NP_001243050.1:n.-120+265T>G
NM_003680.3:c.-620A>C , LRG_273t1:c.-620A>C (YARS1)	NP_003671.1:n.-620A>C
NM_022753.3:c.-120+175T>G (S100PBP)	NP_073590.2:n.-120+175T>G
ENST00000356689.7:n.98+175T>G (S100PBP)
ENST00000373475.9:c.-120+175T>G (S100PBP)	ENSP00000362574.5:n.-120+175T>G
ENST00000373476.5:c.-120+265T>G (S100PBP)	ENSP00000362575.1:n.-120+265T>G
ENST00000373477.8:c.-620A>C (YARS1)	ENSP00000362576.4:n.-620A>C
ENST00000474103.1:n.109+18T>G (S100PBP)
ENST00000477248.1:n.34+175T>G (S100PBP)
ENST00000482212.1:c.-120+18T>G (S100PBP)	ENSP00000431432.1:n.-120+18T>G
ENST00000526230.1:c.-176+175T>G (S100PBP)	ENSP00000431940.1:n.-176+175T>G
ENST00000529027.5:c.-173+175T>G (S100PBP)	ENSP00000431921.1:n.-173+175T>G
ENST00000530710.5:c.-120+882T>G (S100PBP)	ENSP00000434933.1:n.-120+882T>G
ENST00000531123.5:n.115+175T>G (S100PBP)
ENST00000531256.1:c.-3+175T>G (S100PBP)	ENSP00000435856.1:n.-3+175T>G
ENST00000675785.2:c.-620A>C (YARS1)	ENSP00000502019.1:n.-620A>C
XM_006710819.2:c.-120+175T>G (S100PBP)	XP_006710882.1:n.-120+175T>G
XM_006710820.2:c.-120+175T>G (S100PBP)	XP_006710883.1:n.-120+175T>G
XM_011541961.1:c.-120+18T>G (S100PBP)	XP_011540263.1:n.-120+18T>G
XM_011541961.2:c.-120+18T>G (S100PBP)	XP_011540263.1:n.-120+18T>G
XM_011541962.1:c.-120+882T>G (S100PBP)	XP_011540264.1:n.-120+882T>G
XM_011541962.2:c.-120+882T>G (S100PBP)	XP_011540264.1:n.-120+882T>G
XM_011541963.1:c.-120+175T>G (S100PBP)	XP_011540265.1:n.-120+175T>G
XM_011541963.2:c.-120+175T>G (S100PBP)	XP_011540265.1:n.-120+175T>G
XM_017002098.2:c.-120+175T>G (S100PBP)	XP_016857587.1:n.-120+175T>G
XR_001737363.2:n.135+175T>G (S100PBP)
XR_001737364.2:n.135+175T>G (S100PBP)
XR_001737365.2:n.135+175T>G (S100PBP)
XR_946740.1:n.172+175T>G (S100PBP)
XR_946740.3:n.135+175T>G (S100PBP)