Canonical Allele Identifier: CA361520687

Gene: DIAPH1

Linked Data

• dbSNP Id: rs1436359093
• gnomAD v2: 5-140953571-G-C
• gnomAD v4: 5-141574004-G-C
• MyVariant Identifiers: chr5:g.140953571G>C (hg19) ; chr5:g.141574004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574004G>C , CM000667.2:g.141574004G>C	GRCh38
NC_000005.9:g.140953571G>C , CM000667.1:g.140953571G>C	GRCh37
NC_000005.8:g.140933755G>C	NCBI36
NG_011594.1:g.50052C>G
NG_011594.2:g.50052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1846C>G MANE Select	ENSP00000373706.4:p.Pro616Ala
ENST00000647433.1:c.1846C>G	ENSP00000494675.1:p.Pro616Ala
ENST00000253811.10:c.1714C>G	ENSP00000253811.7:p.Pro572Ala
ENST00000389054.7:c.1846C>G	ENSP00000373706.4:p.Pro616Ala
ENST00000389057.9:c.1819C>G	ENSP00000373709.6:p.Pro607Ala
ENST00000398557.8:c.1846C>G	ENSP00000381565.5:p.Pro616Ala
ENST00000518047.5:c.1819C>G	ENSP00000428268.2:p.Pro607Ala
NM_001079812.2:c.1819C>G	NP_001073280.1:p.Pro607Ala
NM_001314007.1:c.1846C>G	NP_001300936.1:p.Pro616Ala
NM_005219.4:c.1846C>G	NP_005210.3:p.Pro616Ala
XM_011537572.1:c.1810C>G	XP_011535874.1:p.Pro604Ala
XM_011537573.1:c.1780C>G	XP_011535875.1:p.Pro594Ala
XM_024454384.1:c.1846C>G	XP_024310152.1:p.Pro616Ala
XM_024454385.1:c.1819C>G	XP_024310153.1:p.Pro607Ala
XM_024454386.1:c.1810C>G	XP_024310154.1:p.Pro604Ala
XM_024454387.1:c.1780C>G	XP_024310155.1:p.Pro594Ala
NM_005219.5:c.1846C>G MANE Select	NP_005210.3:p.Pro616Ala
NM_001079812.3:c.1819C>G	NP_001073280.1:p.Pro607Ala
NM_001314007.2:c.1846C>G	NP_001300936.1:p.Pro616Ala