Canonical Allele Identifier: CA205243032

Gene: SVIL

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.29529899G>A , CM000672.2:g.29529899G>A	GRCh38
NC_000010.10:g.29818828G>A , CM000672.1:g.29818828G>A	GRCh37
NC_000010.9:g.29858834G>A	NCBI36
NG_033998.1:g.210903C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021738.3:c.2107-55C>T MANE Select	NP_068506.2:n.2107-55C>T
ENST00000355867.9:c.2107-55C>T MANE Select	ENSP00000348128.4:n.2107-55C>T
NM_001323599.1:c.1177-55C>T	NP_001310528.1:n.1177-55C>T
NM_001323599.2:c.1177-55C>T	NP_001310528.1:n.1177-55C>T
NM_001323600.1:c.925-55C>T	NP_001310529.1:n.925-55C>T
NM_003174.3:c.925-55C>T	NP_003165.2:n.925-55C>T
NM_021738.2:c.2107-55C>T	NP_068506.2:n.2107-55C>T
ENST00000355867.8:c.2107-55C>T	ENSP00000348128.4:n.2107-55C>T
ENST00000375398.6:c.2107-55C>T	ENSP00000364547.3:n.2107-55C>T
ENST00000375400.7:c.925-55C>T	ENSP00000364549.3:n.925-55C>T
ENST00000674475.1:c.1177-55C>T	ENSP00000501521.1:n.1177-55C>T
XM_005252570.2:c.2107-55C>T	XP_005252627.1:n.2107-55C>T
XM_005252571.2:c.2107-55C>T	XP_005252628.1:n.2107-55C>T
XM_005252571.4:c.2107-55C>T	XP_005252628.1:n.2107-55C>T
XM_005252573.2:c.2107-55C>T	XP_005252630.1:n.2107-55C>T
XM_005252573.3:c.2107-55C>T	XP_005252630.1:n.2107-55C>T
XM_011519630.1:c.2107-55C>T	XP_011517932.1:n.2107-55C>T
XM_011519631.1:c.2107-55C>T	XP_011517933.1:n.2107-55C>T
XM_011519632.1:c.1936-55C>T	XP_011517934.1:n.1936-55C>T
XM_011519633.1:c.2107-55C>T	XP_011517935.1:n.2107-55C>T
XM_011519634.1:c.2107-55C>T	XP_011517936.1:n.2107-55C>T
XM_011519635.1:c.2107-55C>T	XP_011517937.1:n.2107-55C>T
XM_011519635.2:c.2107-55C>T	XP_011517937.1:n.2107-55C>T
XM_011519636.1:c.1177-55C>T	XP_011517938.1:n.1177-55C>T
XM_011519637.1:c.925-55C>T	XP_011517939.1:n.925-55C>T
XM_011519638.1:c.925-55C>T	XP_011517940.1:n.925-55C>T
XM_011519639.1:c.2107-55C>T	XP_011517941.1:n.2107-55C>T
XM_011519640.1:c.2107-55C>T	XP_011517942.1:n.2107-55C>T
XM_024448138.1:c.2341-55C>T	XP_024303906.1:n.2341-55C>T
XM_024448139.1:c.2107-55C>T	XP_024303907.1:n.2107-55C>T
XM_024448140.1:c.2026-55C>T	XP_024303908.1:n.2026-55C>T
XM_024448141.1:c.2107-55C>T	XP_024303909.1:n.2107-55C>T
XM_024448142.1:c.1936-55C>T	XP_024303910.1:n.1936-55C>T
XM_024448143.1:c.2107-55C>T	XP_024303911.1:n.2107-55C>T
XM_024448144.1:c.1177-55C>T	XP_024303912.1:n.1177-55C>T
XM_024448145.1:c.1177-55C>T	XP_024303913.1:n.1177-55C>T
XM_024448146.1:c.1006-55C>T	XP_024303914.1:n.1006-55C>T
XM_024448147.1:c.925-55C>T	XP_024303915.1:n.925-55C>T
XM_024448148.1:c.925-55C>T	XP_024303916.1:n.925-55C>T
XM_024448149.1:c.2107-55C>T	XP_024303917.1:n.2107-55C>T