Canonical Allele Identifier: CA137278262

Gene: TULP1

Linked Data

• dbSNP Id: rs774448249
• gnomAD v4: 6-35500144-G-C
• MyVariant Identifiers: chr6:g.35467921G>C (hg19) ; chr6:g.35500144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500144G>C , CM000668.2:g.35500144G>C	GRCh38
NC_000006.11:g.35467921G>C , CM000668.1:g.35467921G>C	GRCh37
NC_000006.10:g.35575899G>C	NCBI36
NG_009077.1:g.17727C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1332C>G MANE Select	ENSP00000229771.6:p.Asp444Glu
ENST00000229771.10:c.1332C>G	ENSP00000229771.6:p.Asp444Glu
ENST00000322263.8:c.1173C>G	ENSP00000319414.4:p.Asp391Glu
ENST00000495781.1:n.508C>G
ENST00000614066.4:c.1326C>G	ENSP00000477534.1:p.Asp442Glu
NM_001289395.1:c.1173C>G	NP_001276324.1:p.Asp391Glu
NM_003322.4:c.1332C>G	NP_003313.3:p.Asp444Glu
NM_003322.5:c.1332C>G	NP_003313.3:p.Asp444Glu
NM_003322.6:c.1332C>G MANE Select	NP_003313.3:p.Asp444Glu
NM_001289395.2:c.1173C>G	NP_001276324.1:p.Asp391Glu