Canonical Allele Identifier: CA5653095

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1550099
• ClinVar RCV Id: RCV002175250
• dbSNP Id: rs760731620
• ExAC: 10:102748579 T / C
• gnomAD v2: 10-102748579-T-C
• gnomAD v3: 10-100988822-T-C
• gnomAD v4: 10-100988822-T-C
• MyVariant Identifiers: chr10:g.102748579T>C (hg19) ; chr10:g.100988822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988822T>C , CM000672.2:g.100988822T>C	GRCh38
NC_000010.10:g.102748579T>C , CM000672.1:g.102748579T>C	GRCh37
NC_000010.9:g.102738569T>C	NCBI36
NG_011646.1:g.3694A>G
NG_012624.1:g.6287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.612T>C MANE Select	ENSP00000309595.2:p.Leu204=
ENST00000370228.2:c.612T>C	ENSP00000359248.1:p.Leu204=
ENST00000643860.1:c.612T>C	ENSP00000494389.1:p.Leu204=
ENST00000646226.1:n.59-822T>C
ENST00000311916.6:c.612T>C	ENSP00000309595.2:p.Leu204=
ENST00000370228.1:c.612T>C	ENSP00000359248.1:p.Leu204=
ENST00000459764.1:n.87-822T>C
ENST00000473656.5:n.65-822T>C
ENST00000476766.5:n.192-884T>C
NM_001163812.1:c.612T>C	NP_001157284.1:p.Leu204=
NM_001163813.1:c.-119-822T>C	NP_001157285.1:n.-119-822T>C
NM_001163814.1:c.-119-822T>C	NP_001157286.1:n.-119-822T>C
NM_021830.4:c.612T>C	NP_068602.2:p.Leu204=
XM_011539975.1:c.-57-884T>C	XP_011538277.1:n.-57-884T>C
XR_945788.1:n.1445T>C
XM_011539975.2:c.-57-884T>C	XP_011538277.1:n.-57-884T>C
XM_017016437.1:c.-689T>C	XP_016871926.1:n.-689T>C
XR_001747142.1:n.786T>C
XR_001747144.1:n.786T>C
XR_002956991.1:n.786T>C
XR_945788.2:n.786T>C
NM_021830.5:c.612T>C MANE Select	NP_068602.2:p.Leu204=
NM_001163812.2:c.612T>C	NP_001157284.1:p.Leu204=
NM_001163813.2:c.-119-822T>C	NP_001157285.1:n.-119-822T>C
NM_001163814.2:c.-119-822T>C	NP_001157286.1:n.-119-822T>C
NM_001368275.1:c.-57-884T>C	NP_001355204.1:n.-57-884T>C
NR_160738.1:n.1280T>C
NR_160739.1:n.72-822T>C
NR_160740.1:n.1280T>C
NR_160741.1:n.1280T>C
NR_160742.1:n.1280T>C