Canonical Allele Identifier: CA363779179

Gene: TULP1

Linked Data

• ClinVar Variation Id: 867022
• ClinVar RCV Id: RCV001075489
• dbSNP Id: rs765597804
• gnomAD v4: 6-35503635-C-A
• MyVariant Identifiers: chr6:g.35471412C>A (hg19) ; chr6:g.35503635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503635C>A , CM000668.2:g.35503635C>A	GRCh38
NC_000006.11:g.35471412C>A , CM000668.1:g.35471412C>A	GRCh37
NC_000006.10:g.35579390C>A	NCBI36
NG_009077.1:g.14236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1247G>T MANE Select	ENSP00000229771.6:p.Arg416Leu
ENST00000229771.10:c.1247G>T	ENSP00000229771.6:p.Arg416Leu
ENST00000322263.8:c.1088G>T	ENSP00000319414.4:p.Arg363Leu
ENST00000495781.1:n.423G>T
ENST00000496434.5:n.264G>T
ENST00000614066.4:c.1241G>T	ENSP00000477534.1:p.Arg414Leu
NM_001289395.1:c.1088G>T	NP_001276324.1:p.Arg363Leu
NM_003322.4:c.1247G>T	NP_003313.3:p.Arg416Leu
NM_003322.5:c.1247G>T	NP_003313.3:p.Arg416Leu
NM_003322.6:c.1247G>T MANE Select	NP_003313.3:p.Arg416Leu
NM_001289395.2:c.1088G>T	NP_001276324.1:p.Arg363Leu