Canonical Allele Identifier: CA368214440

Gene: CALCR

Linked Data

• dbSNP Id: rs1193360317
• gnomAD v2: 7-93055771-T-A
• MyVariant Identifiers: chr7:g.93055771T>A (hg19) ; chr7:g.93426459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426459T>A , CM000669.2:g.93426459T>A	GRCh38
NC_000007.13:g.93055771T>A , CM000669.1:g.93055771T>A	GRCh37
NC_000007.12:g.92893707T>A	NCBI36
NG_013005.1:g.153272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1322A>T MANE Select	ENSP00000389295.1:p.Tyr441Phe
ENST00000649521.1:c.1370A>T	ENSP00000497687.1:p.Tyr457Phe
ENST00000359558.6:c.1424A>T	ENSP00000352561.2:p.Tyr475Phe
ENST00000360249.8:c.*832A>T	ENSP00000353385.5:n.*832A>T
ENST00000394441.5:c.1322A>T	ENSP00000377959.1:p.Tyr441Phe
ENST00000415529.2:c.1372A>T	ENSP00000413179.1:n.1372A>T
ENST00000421592.5:c.1370A>T	ENSP00000399552.1:p.Tyr457Phe
ENST00000423724.5:c.1420A>T	ENSP00000391369.1:n.1420A>T
ENST00000426151.5:c.1322A>T	ENSP00000389295.1:p.Tyr441Phe
NM_001164737.1:c.1424A>T	NP_001158209.1:p.Tyr475Phe
NM_001164738.1:c.1322A>T	NP_001158210.1:p.Tyr441Phe
NM_001742.3:c.1322A>T	NP_001733.1:p.Tyr441Phe
NM_001164737.2:c.1370A>T	NP_001158209.2:p.Tyr457Phe
NM_001742.4:c.1322A>T MANE Select	NP_001733.1:p.Tyr441Phe
NM_001164737.3:c.1370A>T	NP_001158209.2:p.Tyr457Phe
NM_001164738.2:c.1322A>T	NP_001158210.1:p.Tyr441Phe