Canonical Allele Identifier: CA412196471

Gene: TYMP SCO2

Linked Data

• MyVariant Identifiers: chr22:g.50964326T>G (hg19) ; chr22:g.50525897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525897T>G , CM000684.2:g.50525897T>G	GRCh38
NC_000022.10:g.50964326T>G , CM000684.1:g.50964326T>G	GRCh37
NC_000022.9:g.49311192T>G	NCBI36
NG_011860.1:g.9189A>C , LRG_727:g.9189A>C
NG_016235.1:g.5543A>C
NG_021419.1:g.22682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1322A>C (TYMP) MANE Select	ENSP00000252029.3:p.His441Pro
ENST00000395680.6:c.1322A>C (TYMP)	ENSP00000379037.1:p.His441Pro
ENST00000395681.6:c.1337A>C (TYMP)	ENSP00000379038.1:p.His446Pro
ENST00000543927.6:c.-14+349A>C (SCO2)	ENSP00000444433.1:n.-14+349A>C
ENST00000638598.2:c.-14+104A>C (SCO2)	ENSP00000491753.2:n.-14+104A>C
ENST00000651490.1:c.114A>C (TYMP)
ENST00000652401.1:c.823A>C (TYMP)
ENST00000252029.7:c.1322A>C (TYMP)	ENSP00000252029.3:p.His441Pro
ENST00000395678.7:c.1322A>C (TYMP)	ENSP00000379036.3:p.His441Pro
ENST00000395680.5:c.1322A>C (TYMP)	ENSP00000379037.1:p.His441Pro
ENST00000395681.5:c.1337A>C (TYMP)	ENSP00000379038.1:p.His446Pro
ENST00000423348.1:c.-14+349A>C	ENSP00000403570.1:n.-14+349A>C
ENST00000425169.1:c.1223A>C (TYMP)	ENSP00000395875.1:p.His408Pro
ENST00000439934.5:c.-14+104A>C	ENSP00000415642.1:n.-14+104A>C
ENST00000476284.1:n.1432A>C (TYMP)
ENST00000487577.5:n.1609A>C (TYMP)
ENST00000535425.5:c.-14+104A>C	ENSP00000444242.1:n.-14+104A>C
ENST00000543927.5:c.-14+349A>C	ENSP00000444433.1:n.-14+349A>C
NM_001113755.2:c.1322A>C (TYMP)	NP_001107227.1:p.His441Pro
NM_001113756.2:c.1322A>C (TYMP)	NP_001107228.1:p.His441Pro
NM_001169109.1:c.-14+349A>C (SCO2)	NP_001162580.1:n.-14+349A>C
NM_001169110.1:c.-14+104A>C (SCO2)	NP_001162581.1:n.-14+104A>C
NM_001257988.1:c.1322A>C , LRG_727t1:c.1322A>C (TYMP)	NP_001244917.1:p.His441Pro
NM_001257989.1:c.1337A>C , LRG_727t2:c.1337A>C (TYMP)	NP_001244918.1:p.His446Pro
NM_001953.4:c.1322A>C (TYMP)	NP_001944.1:p.His441Pro
NM_001113755.3:c.1322A>C (TYMP)	NP_001107227.1:p.His441Pro
NM_001113756.3:c.1322A>C (TYMP)	NP_001107228.1:p.His441Pro
NM_001953.5:c.1322A>C (TYMP) MANE Select	NP_001944.1:p.His441Pro
NM_001169109.2:c.-14+349A>C (SCO2)	NP_001162580.1:n.-14+349A>C