Canonical Allele Identifier: CA363779181

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35471413G>C (hg19) ; chr6:g.35503636G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503636G>C , CM000668.2:g.35503636G>C	GRCh38
NC_000006.11:g.35471413G>C , CM000668.1:g.35471413G>C	GRCh37
NC_000006.10:g.35579391G>C	NCBI36
NG_009077.1:g.14235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1246C>G MANE Select	ENSP00000229771.6:p.Arg416Gly
ENST00000229771.10:c.1246C>G	ENSP00000229771.6:p.Arg416Gly
ENST00000322263.8:c.1087C>G	ENSP00000319414.4:p.Arg363Gly
ENST00000495781.1:n.422C>G
ENST00000496434.5:n.263C>G
ENST00000614066.4:c.1240C>G	ENSP00000477534.1:p.Arg414Gly
NM_001289395.1:c.1087C>G	NP_001276324.1:p.Arg363Gly
NM_003322.4:c.1246C>G	NP_003313.3:p.Arg416Gly
NM_003322.5:c.1246C>G	NP_003313.3:p.Arg416Gly
NM_003322.6:c.1246C>G MANE Select	NP_003313.3:p.Arg416Gly
NM_001289395.2:c.1087C>G	NP_001276324.1:p.Arg363Gly