Canonical Allele Identifier: CA515387924

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50526421-G-T
• MyVariant Identifiers: chr22:g.50964850G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526421G>T , CM000684.2:g.50526421G>T	GRCh38
NC_000022.10:g.50964850G>T , CM000684.1:g.50964850G>T	GRCh37
NC_000022.9:g.49311716G>T	NCBI36
NG_011860.1:g.8665C>A , LRG_727:g.8665C>A
NG_016235.1:g.5019C>A
NG_021419.1:g.23206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.984C>A (TYMP) MANE Select	ENSP00000252029.3:p.Ala328=
ENST00000395680.6:c.984C>A (TYMP)	ENSP00000379037.1:p.Ala328=
ENST00000395681.6:c.984C>A (TYMP)	ENSP00000379038.1:p.Ala328=
ENST00000543927.6:c.-189C>A (SCO2)	ENSP00000444433.1:n.-189C>A
ENST00000650719.1:c.865C>A (TYMP)	ENSP00000498276.1:p.Pro289Thr
ENST00000651401.1:c.468C>A (TYMP)	ENSP00000499115.1:p.Ala156=
ENST00000652401.1:c.485C>A (TYMP)
ENST00000252029.7:c.984C>A (TYMP)	ENSP00000252029.3:p.Ala328=
ENST00000395678.7:c.984C>A (TYMP)	ENSP00000379036.3:p.Ala328=
ENST00000395680.5:c.984C>A (TYMP)	ENSP00000379037.1:p.Ala328=
ENST00000395681.5:c.984C>A (TYMP)	ENSP00000379038.1:p.Ala328=
ENST00000423348.1:c.-189C>A	ENSP00000403570.1:n.-189C>A
ENST00000425169.1:c.885C>A (TYMP)	ENSP00000395875.1:p.Ala295=
ENST00000476284.1:n.990C>A (TYMP)
ENST00000487577.5:n.1271C>A (TYMP)
ENST00000543927.5:c.-189C>A	ENSP00000444433.1:n.-189C>A
NM_001113755.2:c.984C>A (TYMP)	NP_001107227.1:p.Ala328=
NM_001113756.2:c.984C>A (TYMP)	NP_001107228.1:p.Ala328=
NM_001169109.1:c.-189C>A (SCO2)	NP_001162580.1:n.-189C>A
NM_001257988.1:c.984C>A , LRG_727t1:c.984C>A (TYMP)	NP_001244917.1:p.Ala328=
NM_001257989.1:c.984C>A , LRG_727t2:c.984C>A (TYMP)	NP_001244918.1:p.Ala328=
NM_001953.4:c.984C>A (TYMP)	NP_001944.1:p.Ala328=
NM_001113755.3:c.984C>A (TYMP)	NP_001107227.1:p.Ala328=
NM_001113756.3:c.984C>A (TYMP)	NP_001107228.1:p.Ala328=
NM_001953.5:c.984C>A (TYMP) MANE Select	NP_001944.1:p.Ala328=
NM_001169109.2:c.-189C>A (SCO2)	NP_001162580.1:n.-189C>A