Canonical Allele Identifier: CA363779845

Gene: TULP1

Linked Data

• ClinVar Variation Id: 450005
• ClinVar RCV Id: RCV000519299 ; RCV001591182
• dbSNP Id: rs767030473
• gnomAD v4: 6-35505829-G-A
• MyVariant Identifiers: chr6:g.35473606G>A (hg19) ; chr6:g.35505829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35505829G>A , CM000668.2:g.35505829G>A	GRCh38
NC_000006.11:g.35473606G>A , CM000668.1:g.35473606G>A	GRCh37
NC_000006.10:g.35581584G>A	NCBI36
NG_009077.1:g.12042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1024C>T MANE Select	ENSP00000229771.6:p.Arg342Ter
ENST00000229771.10:c.1024C>T	ENSP00000229771.6:p.Arg342Ter
ENST00000322263.8:c.865C>T	ENSP00000319414.4:p.Arg289Ter
ENST00000373892.4:n.626C>T
ENST00000496434.5:n.41C>T
ENST00000614066.4:c.1018C>T	ENSP00000477534.1:p.Arg340Ter
NM_001289395.1:c.865C>T	NP_001276324.1:p.Arg289Ter
NM_003322.4:c.1024C>T	NP_003313.3:p.Arg342Ter
NM_003322.5:c.1024C>T	NP_003313.3:p.Arg342Ter
NM_003322.6:c.1024C>T MANE Select	NP_003313.3:p.Arg342Ter
NM_001289395.2:c.865C>T	NP_001276324.1:p.Arg289Ter