Canonical Allele Identifier: CA126994

Gene: CRYM

Linked Data

• ClinVar Variation Id: 16935
• ClinVar RCV Id: RCV000018443
• dbSNP Id: rs104894512
• gnomAD v4: 16-21258785-T-G
• MyVariant Identifiers: chr16:g.21270106T>G (hg19) ; chr16:g.21258785T>G (hg38)
• PubMed: PMID:12471561

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21258785T>G , CM000678.2:g.21258785T>G	GRCh38
NC_000016.9:g.21270106T>G , CM000678.1:g.21270106T>G	GRCh37
NC_000016.8:g.21177607T>G	NCBI36
NG_011610.1:g.49312A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219599.8:c.941A>C	ENSP00000219599.3:p.Lys314Thr
ENST00000572914.2:c.941A>C MANE Select	ENSP00000461904.2:p.Lys314Thr
ENST00000219599.7:c.941A>C	ENSP00000219599.3:p.Lys314Thr
ENST00000543948.5:c.941A>C	ENSP00000440227.1:p.Lys314Thr
ENST00000570401.5:c.264+4A>C
ENST00000574448.5:c.*520+2469A>C	ENSP00000459982.1:n.*520+2469A>C
NM_001888.4:c.941A>C	NP_001879.1:p.Lys314Thr
XM_011545740.1:c.941A>C	XP_011544042.1:p.Lys314Thr
XR_950904.1:n.735+3992T>G
XM_024450157.1:c.941A>C	XP_024305925.1:p.Lys314Thr
NM_001888.5:c.941A>C	NP_001879.1:p.Lys314Thr
NM_001376256.1:c.941A>C MANE Select	NP_001363185.1:p.Lys314Thr