Canonical Allele Identifier: CA378211130

Gene: TWNK

Linked Data

• gnomAD v4: 10-100990483-G-T
• MyVariant Identifiers: chr10:g.102750240G>T (hg19) ; chr10:g.100990483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990483G>T , CM000672.2:g.100990483G>T	GRCh38
NC_000010.10:g.102750240G>T , CM000672.1:g.102750240G>T	GRCh37
NC_000010.9:g.102740230G>T	NCBI36
NG_011646.1:g.2033C>A
NG_012624.1:g.7948G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1532G>T MANE Select	ENSP00000309595.2:p.Cys511Phe
ENST00000370228.2:c.1532G>T	ENSP00000359248.1:p.Cys511Phe
ENST00000643860.1:c.1532G>T	ENSP00000494389.1:p.Cys511Phe
ENST00000646226.1:n.347G>T
ENST00000647109.1:c.191G>T
ENST00000650396.1:c.493G>T
ENST00000311916.6:c.1532G>T	ENSP00000309595.2:p.Cys511Phe
ENST00000370228.1:c.1532G>T	ENSP00000359248.1:p.Cys511Phe
ENST00000473656.5:n.353G>T
ENST00000476766.5:n.418G>T
NM_001163812.1:c.1532G>T	NP_001157284.1:p.Cys511Phe
NM_001163813.1:c.170G>T	NP_001157285.1:p.Cys57Phe
NM_001163814.1:c.170G>T	NP_001157286.1:p.Cys57Phe
NM_021830.4:c.1532G>T	NP_068602.2:p.Cys511Phe
XM_011539974.1:c.170G>T	XP_011538276.1:p.Cys57Phe
XM_011539975.1:c.170G>T	XP_011538277.1:p.Cys57Phe
XR_945788.1:n.2303G>T
XM_011539975.2:c.170G>T	XP_011538277.1:p.Cys57Phe
XM_017016437.1:c.170G>T	XP_016871926.1:p.Cys57Phe
XR_001747142.1:n.1706G>T
XR_001747144.1:n.1644G>T
XR_002956991.1:n.1644G>T
XR_945788.2:n.1644G>T
NM_021830.5:c.1532G>T MANE Select	NP_068602.2:p.Cys511Phe
NM_001163812.2:c.1532G>T	NP_001157284.1:p.Cys511Phe
NM_001163813.2:c.170G>T	NP_001157285.1:p.Cys57Phe
NM_001163814.2:c.170G>T	NP_001157286.1:p.Cys57Phe
NM_001368275.1:c.170G>T	NP_001355204.1:p.Cys57Phe
NR_160738.1:n.2200G>T
NR_160739.1:n.360G>T
NR_160740.1:n.2138G>T
NR_160741.1:n.2138G>T
NR_160742.1:n.2138G>T