Canonical Allele Identifier: CA412197239

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1068334
• ClinVar RCV Id: RCV001379850
• dbSNP Id: rs1044840059
• gnomAD v4: 22-50526245-C-A
• MyVariant Identifiers: chr22:g.50964674C>A (hg19) ; chr22:g.50526245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526245C>A , CM000684.2:g.50526245C>A	GRCh38
NC_000022.10:g.50964674C>A , CM000684.1:g.50964674C>A	GRCh37
NC_000022.9:g.49311540C>A	NCBI36
NG_011860.1:g.8841G>T , LRG_727:g.8841G>T
NG_016235.1:g.5195G>T
NG_021419.1:g.23030C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1159+1G>T (TYMP) MANE Select	ENSP00000252029.3:n.1159+1G>T
ENST00000395680.6:c.1159+1G>T (TYMP)	ENSP00000379037.1:n.1159+1G>T
ENST00000395681.6:c.1159+1G>T (TYMP)	ENSP00000379038.1:n.1159+1G>T
ENST00000543927.6:c.-14+1G>T (SCO2)	ENSP00000444433.1:n.-14+1G>T
ENST00000651490.1:c.92+1G>T (TYMP)
ENST00000652401.1:c.660+1G>T (TYMP)
ENST00000252029.7:c.1159+1G>T (TYMP)	ENSP00000252029.3:n.1159+1G>T
ENST00000395678.7:c.1159+1G>T (TYMP)	ENSP00000379036.3:n.1159+1G>T
ENST00000395680.5:c.1159+1G>T (TYMP)	ENSP00000379037.1:n.1159+1G>T
ENST00000395681.5:c.1159+1G>T (TYMP)	ENSP00000379038.1:n.1159+1G>T
ENST00000423348.1:c.-14+1G>T	ENSP00000403570.1:n.-14+1G>T
ENST00000425169.1:c.1060+1G>T (TYMP)	ENSP00000395875.1:n.1060+1G>T
ENST00000476284.1:n.1166G>T (TYMP)
ENST00000487577.5:n.1446+1G>T (TYMP)
ENST00000543927.5:c.-14+1G>T	ENSP00000444433.1:n.-14+1G>T
NM_001113755.2:c.1159+1G>T (TYMP)	NP_001107227.1:n.1159+1G>T
NM_001113756.2:c.1159+1G>T (TYMP)	NP_001107228.1:n.1159+1G>T
NM_001169109.1:c.-14+1G>T (SCO2)	NP_001162580.1:n.-14+1G>T
NM_001257988.1:c.1159+1G>T , LRG_727t1:c.1159+1G>T (TYMP)	NP_001244917.1:n.1159+1G>T
NM_001257989.1:c.1159+1G>T , LRG_727t2:c.1159+1G>T (TYMP)	NP_001244918.1:n.1159+1G>T
NM_001953.4:c.1159+1G>T (TYMP)	NP_001944.1:n.1159+1G>T
NM_001113755.3:c.1159+1G>T (TYMP)	NP_001107227.1:n.1159+1G>T
NM_001113756.3:c.1159+1G>T (TYMP)	NP_001107228.1:n.1159+1G>T
NM_001953.5:c.1159+1G>T (TYMP) MANE Select	NP_001944.1:n.1159+1G>T
NM_001169109.2:c.-14+1G>T (SCO2)	NP_001162580.1:n.-14+1G>T