Canonical Allele Identifier: CA2212359974
Community Standard Title: NM_001376256.1(CRYM):c.941A= (p.Lys314=)
Gene: CRYM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001376256.1:c.941A= MANE Select NP_001363185.1:p.Lys314=
ENST00000572914.2:c.941A= MANE Select ENSP00000461904.2:p.Lys314=
NM_001888.4:c.941A= NP_001879.1:p.Lys314=
NM_001888.5:c.941A= NP_001879.1:p.Lys314=
ENST00000219599.7:c.941A= ENSP00000219599.3:p.Lys314=
ENST00000219599.8:c.941A= ENSP00000219599.3:p.Lys314=
ENST00000543948.5:c.941A= ENSP00000440227.1:p.Lys314=
ENST00000570401.5:c.264+4A=
ENST00000574448.5:c.*520+2469A= ENSP00000459982.1:n.*520+2469A=
XM_011545740.1:c.941A= XP_011544042.1:p.Lys314=
XM_024450157.1:c.941A= XP_024305925.1:p.Lys314=
XR_950904.1:n.735+3992T=