Canonical Allele Identifier: CA1540991

Gene: GEN1 SMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17781845T>C , CM000664.2:g.17781845T>C	GRCh38
NC_000002.11:g.17963112T>C , CM000664.1:g.17963112T>C	GRCh37
NC_000002.10:g.17826593T>C	NCBI36
NG_051292.1:g.33159T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130009.3:c.2633T>C (GEN1) MANE Select	NP_001123481.3:p.Leu878Pro
ENST00000381254.7:c.2633T>C (GEN1) MANE Select	ENSP00000370653.2:p.Leu878Pro
NM_001130009.1:c.2633T>C (GEN1)	NP_001123481.1:p.Leu878Pro
NM_001130009.2:c.2633T>C (GEN1)	NP_001123481.2:p.Leu878Pro
NM_182625.3:c.2633T>C (GEN1)	NP_872431.3:p.Leu878Pro
NM_182625.4:c.2633T>C (GEN1)	NP_872431.4:p.Leu878Pro
NM_182625.5:c.2633T>C (GEN1)	NP_872431.5:p.Leu878Pro
ENST00000317402.11:c.2633T>C (GEN1)	ENSP00000318977.7:p.Leu878Pro
ENST00000381254.6:c.2633T>C (GEN1)	ENSP00000370653.2:p.Leu878Pro
ENST00000402989.5:c.-6+5970A>G (SMC6)	ENSP00000384539.1:n.-6+5970A>G
ENST00000428868.1:c.-6+5970A>G (SMC6)	ENSP00000415352.1:n.-6+5970A>G
XM_005262613.3:c.2633T>C (GEN1)	XP_005262670.1:p.Leu878Pro
XM_005262613.4:c.2633T>C (GEN1)	XP_005262670.1:p.Leu878Pro
XM_006712005.2:c.2633T>C (GEN1)	XP_006712068.1:p.Leu878Pro
XM_006712005.3:c.2633T>C (GEN1)	XP_006712068.1:p.Leu878Pro
XM_011532820.1:c.2633T>C (GEN1)	XP_011531122.1:p.Leu878Pro
XM_011532820.2:c.2633T>C (GEN1)	XP_011531122.1:p.Leu878Pro
XM_011532821.1:c.2633T>C (GEN1)	XP_011531123.1:p.Leu878Pro
XM_011532821.2:c.2633T>C (GEN1)	XP_011531123.1:p.Leu878Pro
XM_011532822.1:c.2633T>C (GEN1)	XP_011531124.1:p.Leu878Pro
XM_011532822.2:c.2633T>C (GEN1)	XP_011531124.1:p.Leu878Pro
XR_939762.1:n.1409-17198A>G
XR_939762.2:n.1418-17198A>G