Canonical Allele Identifier: CA2838540324

Gene: SVIL

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.29517838T>C , CM000672.2:g.29517838T>C	GRCh38
NC_000010.10:g.29806767T>C , CM000672.1:g.29806767T>C	GRCh37
NC_000010.9:g.29846773T>C	NCBI36
NG_033998.1:g.222964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355867.9:c.3389+4572A>G MANE Select	ENSP00000348128.4:n.3389+4572A>G
ENST00000674475.1:c.2459+4572A>G	ENSP00000501521.1:n.2459+4572A>G
ENST00000355867.8:c.3389+4572A>G	ENSP00000348128.4:n.3389+4572A>G
ENST00000375398.6:c.3293+4572A>G	ENSP00000364547.3:n.3293+4572A>G
ENST00000375400.7:c.2111+4572A>G	ENSP00000364549.3:n.2111+4572A>G
ENST00000464984.1:n.159+4572A>G
ENST00000632315.1:c.118+4572A>G
NM_003174.3:c.2111+4572A>G	NP_003165.2:n.2111+4572A>G
NM_021738.2:c.3389+4572A>G	NP_068506.2:n.3389+4572A>G
XM_005252570.2:c.3389+4572A>G	XP_005252627.1:n.3389+4572A>G
XM_005252571.2:c.3389+4572A>G	XP_005252628.1:n.3389+4572A>G
XM_005252573.2:c.3389+4572A>G	XP_005252630.1:n.3389+4572A>G
XM_011519630.1:c.3389+4572A>G	XP_011517932.1:n.3389+4572A>G
XM_011519631.1:c.3293+4572A>G	XP_011517933.1:n.3293+4572A>G
XM_011519632.1:c.3218+4572A>G	XP_011517934.1:n.3218+4572A>G
XM_011519633.1:c.3293+4572A>G	XP_011517935.1:n.3293+4572A>G
XM_011519634.1:c.3389+4572A>G	XP_011517936.1:n.3389+4572A>G
XM_011519635.1:c.3389+4572A>G	XP_011517937.1:n.3389+4572A>G
XM_011519636.1:c.2459+4572A>G	XP_011517938.1:n.2459+4572A>G
XM_011519637.1:c.2207+4572A>G	XP_011517939.1:n.2207+4572A>G
XM_011519638.1:c.2111+4572A>G	XP_011517940.1:n.2111+4572A>G
XM_011519639.1:c.3389+4572A>G	XP_011517941.1:n.3389+4572A>G
XM_011519640.1:c.3389+4572A>G	XP_011517942.1:n.3389+4572A>G
NM_001323599.1:c.2459+4572A>G	NP_001310528.1:n.2459+4572A>G
NM_001323600.1:c.2207+4572A>G	NP_001310529.1:n.2207+4572A>G
XM_005252571.4:c.3389+4572A>G	XP_005252628.1:n.3389+4572A>G
XM_005252573.3:c.3389+4572A>G	XP_005252630.1:n.3389+4572A>G
XM_011519635.2:c.3389+4572A>G	XP_011517937.1:n.3389+4572A>G
XM_024448138.1:c.3623+4572A>G	XP_024303906.1:n.3623+4572A>G
XM_024448139.1:c.3389+4572A>G	XP_024303907.1:n.3389+4572A>G
XM_024448140.1:c.3308+4572A>G	XP_024303908.1:n.3308+4572A>G
XM_024448141.1:c.3293+4572A>G	XP_024303909.1:n.3293+4572A>G
XM_024448142.1:c.3218+4572A>G	XP_024303910.1:n.3218+4572A>G
XM_024448143.1:c.3293+4572A>G	XP_024303911.1:n.3293+4572A>G
XM_024448144.1:c.2459+4572A>G	XP_024303912.1:n.2459+4572A>G
XM_024448145.1:c.2363+4572A>G	XP_024303913.1:n.2363+4572A>G
XM_024448146.1:c.2288+4572A>G	XP_024303914.1:n.2288+4572A>G
XM_024448147.1:c.2207+4572A>G	XP_024303915.1:n.2207+4572A>G
XM_024448148.1:c.2111+4572A>G	XP_024303916.1:n.2111+4572A>G
XM_024448149.1:c.3389+4572A>G	XP_024303917.1:n.3389+4572A>G
NM_001323599.2:c.2459+4572A>G	NP_001310528.1:n.2459+4572A>G
NM_021738.3:c.3389+4572A>G MANE Select	NP_068506.2:n.3389+4572A>G