Canonical Allele Identifier: CA515387547

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1093610
• ClinVar RCV Id: RCV001413802
• dbSNP Id: rs2069329521
• gnomAD v4: 22-50525809-G-A
• MyVariant Identifiers: chr22:g.50964238G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525809G>A , CM000684.2:g.50525809G>A	GRCh38
NC_000022.10:g.50964238G>A , CM000684.1:g.50964238G>A	GRCh37
NC_000022.9:g.49311104G>A	NCBI36
NG_011860.1:g.9277C>T , LRG_727:g.9277C>T
NG_016235.1:g.5631C>T
NG_021419.1:g.22594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1410C>T (TYMP) MANE Select	ENSP00000252029.3:p.Pro470=
ENST00000395680.6:c.1410C>T (TYMP)	ENSP00000379037.1:p.Pro470=
ENST00000395681.6:c.1425C>T (TYMP)	ENSP00000379038.1:p.Pro475=
ENST00000543927.6:c.-14+437C>T (SCO2)	ENSP00000444433.1:n.-14+437C>T
ENST00000638598.2:c.-14+192C>T (SCO2)	ENSP00000491753.2:n.-14+192C>T
ENST00000651490.1:c.202C>T (TYMP)
ENST00000252029.7:c.1410C>T (TYMP)	ENSP00000252029.3:p.Pro470=
ENST00000395678.7:c.1410C>T (TYMP)	ENSP00000379036.3:p.Pro470=
ENST00000395680.5:c.1410C>T (TYMP)	ENSP00000379037.1:p.Pro470=
ENST00000395681.5:c.1425C>T (TYMP)	ENSP00000379038.1:p.Pro475=
ENST00000423348.1:c.-14+437C>T	ENSP00000403570.1:n.-14+437C>T
ENST00000425169.1:c.1311C>T (TYMP)	ENSP00000395875.1:p.Pro437=
ENST00000439934.5:c.-14+192C>T	ENSP00000415642.1:n.-14+192C>T
ENST00000476284.1:n.1520C>T (TYMP)
ENST00000487577.5:n.1697C>T (TYMP)
ENST00000535425.5:c.-14+192C>T	ENSP00000444242.1:n.-14+192C>T
ENST00000543927.5:c.-14+437C>T	ENSP00000444433.1:n.-14+437C>T
NM_001113755.2:c.1410C>T (TYMP)	NP_001107227.1:p.Pro470=
NM_001113756.2:c.1410C>T (TYMP)	NP_001107228.1:p.Pro470=
NM_001169109.1:c.-14+437C>T (SCO2)	NP_001162580.1:n.-14+437C>T
NM_001169110.1:c.-14+192C>T (SCO2)	NP_001162581.1:n.-14+192C>T
NM_001257988.1:c.1410C>T , LRG_727t1:c.1410C>T (TYMP)	NP_001244917.1:p.Pro470=
NM_001257989.1:c.1425C>T , LRG_727t2:c.1425C>T (TYMP)	NP_001244918.1:p.Pro475=
NM_001953.4:c.1410C>T (TYMP)	NP_001944.1:p.Pro470=
NM_001113755.3:c.1410C>T (TYMP)	NP_001107227.1:p.Pro470=
NM_001113756.3:c.1410C>T (TYMP)	NP_001107228.1:p.Pro470=
NM_001953.5:c.1410C>T (TYMP) MANE Select	NP_001944.1:p.Pro470=
NM_001169109.2:c.-14+437C>T (SCO2)	NP_001162580.1:n.-14+437C>T