Canonical Allele Identifier: CA363778930

Gene: TULP1

Linked Data

• dbSNP Id: rs1561812394
• gnomAD v4: 6-35500121-T-C
• MyVariant Identifiers: chr6:g.35467898T>C (hg19) ; chr6:g.35500121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500121T>C , CM000668.2:g.35500121T>C	GRCh38
NC_000006.11:g.35467898T>C , CM000668.1:g.35467898T>C	GRCh37
NC_000006.10:g.35575876T>C	NCBI36
NG_009077.1:g.17750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1355A>G MANE Select	ENSP00000229771.6:p.Asn452Ser
ENST00000229771.10:c.1355A>G	ENSP00000229771.6:p.Asn452Ser
ENST00000322263.8:c.1196A>G	ENSP00000319414.4:p.Asn399Ser
ENST00000495781.1:n.531A>G
ENST00000614066.4:c.1349A>G	ENSP00000477534.1:p.Asn450Ser
NM_001289395.1:c.1196A>G	NP_001276324.1:p.Asn399Ser
NM_003322.4:c.1355A>G	NP_003313.3:p.Asn452Ser
NM_003322.5:c.1355A>G	NP_003313.3:p.Asn452Ser
NM_003322.6:c.1355A>G MANE Select	NP_003313.3:p.Asn452Ser
NM_001289395.2:c.1196A>G	NP_001276324.1:p.Asn399Ser