Canonical Allele Identifier: CA290927364

Gene: GRN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352749C>T , CM000679.2:g.44352749C>T	GRCh38
NC_000017.10:g.42430117C>T , CM000679.1:g.42430117C>T	GRCh37
NC_000017.9:g.39785643C>T	NCBI36
NG_007886.1:g.12627C>T , LRG_661:g.12627C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002087.4:c.1733C>T MANE Select	NP_002078.1:p.Pro578Leu
ENST00000053867.8:c.1733C>T MANE Select	ENSP00000053867.2:p.Pro578Leu
NM_002087.3:c.1733C>T	NP_002078.1:p.Pro578Leu
ENST00000053867.7:c.1733C>T	ENSP00000053867.2:p.Pro578Leu
ENST00000586242.1:c.312C>T
ENST00000586443.1:c.1263C>T
ENST00000589265.5:c.1262C>T	ENSP00000467616.1:p.Pro421Leu
ENST00000639447.1:c.1268C>T	ENSP00000492014.1:p.Pro423Leu
XM_005257253.1:c.1733C>T	XP_005257310.1:p.Pro578Leu
XM_024450730.1:c.1733C>T	XP_024306498.1:p.Pro578Leu