Canonical Allele Identifier: CA412196833

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs1316453342
• gnomAD v4: 22-50526045-A-G
• MyVariant Identifiers: chr22:g.50964474A>G (hg19) ; chr22:g.50526045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526045A>G , CM000684.2:g.50526045A>G	GRCh38
NC_000022.10:g.50964474A>G , CM000684.1:g.50964474A>G	GRCh37
NC_000022.9:g.49311340A>G	NCBI36
NG_011860.1:g.9041T>C , LRG_727:g.9041T>C
NG_016235.1:g.5395T>C
NG_021419.1:g.22830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1256T>C (TYMP) MANE Select	ENSP00000252029.3:p.Val419Ala
ENST00000395680.6:c.1256T>C (TYMP)	ENSP00000379037.1:p.Val419Ala
ENST00000395681.6:c.1271T>C (TYMP)	ENSP00000379038.1:p.Val424Ala
ENST00000543927.6:c.-14+201T>C (SCO2)	ENSP00000444433.1:n.-14+201T>C
ENST00000638598.2:c.-58T>C (SCO2)	ENSP00000491753.2:n.-58T>C
ENST00000651490.1:c.93-127T>C (TYMP)
ENST00000652401.1:c.757T>C (TYMP)
ENST00000252029.7:c.1256T>C (TYMP)	ENSP00000252029.3:p.Val419Ala
ENST00000395678.7:c.1256T>C (TYMP)	ENSP00000379036.3:p.Val419Ala
ENST00000395680.5:c.1256T>C (TYMP)	ENSP00000379037.1:p.Val419Ala
ENST00000395681.5:c.1271T>C (TYMP)	ENSP00000379038.1:p.Val424Ala
ENST00000423348.1:c.-14+201T>C	ENSP00000403570.1:n.-14+201T>C
ENST00000425169.1:c.1157T>C (TYMP)	ENSP00000395875.1:p.Val386Ala
ENST00000439934.5:c.-58T>C	ENSP00000415642.1:n.-58T>C
ENST00000476284.1:n.1366T>C (TYMP)
ENST00000487577.5:n.1543T>C (TYMP)
ENST00000535425.5:c.-58T>C	ENSP00000444242.1:n.-58T>C
ENST00000543927.5:c.-14+201T>C	ENSP00000444433.1:n.-14+201T>C
NM_001113755.2:c.1256T>C (TYMP)	NP_001107227.1:p.Val419Ala
NM_001113756.2:c.1256T>C (TYMP)	NP_001107228.1:p.Val419Ala
NM_001169109.1:c.-14+201T>C (SCO2)	NP_001162580.1:n.-14+201T>C
NM_001169110.1:c.-58T>C (SCO2)	NP_001162581.1:n.-58T>C
NM_001257988.1:c.1256T>C , LRG_727t1:c.1256T>C (TYMP)	NP_001244917.1:p.Val419Ala
NM_001257989.1:c.1271T>C , LRG_727t2:c.1271T>C (TYMP)	NP_001244918.1:p.Val424Ala
NM_001953.4:c.1256T>C (TYMP)	NP_001944.1:p.Val419Ala
NM_001113755.3:c.1256T>C (TYMP)	NP_001107227.1:p.Val419Ala
NM_001113756.3:c.1256T>C (TYMP)	NP_001107228.1:p.Val419Ala
NM_001953.5:c.1256T>C (TYMP) MANE Select	NP_001944.1:p.Val419Ala
NM_001169109.2:c.-14+201T>C (SCO2)	NP_001162580.1:n.-14+201T>C