Canonical Allele Identifier: CA279383877

Gene: CRYM

Linked Data

• dbSNP Id: rs104894512
• gnomAD v3: 16-21258785-T-C
• gnomAD v4: 16-21258785-T-C
• MyVariant Identifiers: chr16:g.21270106T>C (hg19) ; chr16:g.21258785T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000219599.8:c.941A>G	ENSP00000219599.3:p.Lys314Arg
ENST00000572914.2:c.941A>G MANE Select	ENSP00000461904.2:p.Lys314Arg
ENST00000219599.7:c.941A>G	ENSP00000219599.3:p.Lys314Arg
ENST00000543948.5:c.941A>G	ENSP00000440227.1:p.Lys314Arg
ENST00000570401.5:c.264+4A>G
ENST00000574448.5:c.*520+2469A>G	ENSP00000459982.1:n.*520+2469A>G
NM_001888.4:c.941A>G	NP_001879.1:p.Lys314Arg
XM_011545740.1:c.941A>G	XP_011544042.1:p.Lys314Arg
XR_950904.1:n.735+3992T>C
XM_024450157.1:c.941A>G	XP_024305925.1:p.Lys314Arg
NM_001888.5:c.941A>G	NP_001879.1:p.Lys314Arg
NM_001376256.1:c.941A>G MANE Select	NP_001363185.1:p.Lys314Arg