Canonical Allele Identifier: CA361037096

Gene: SMAD5

Linked Data

• MyVariant Identifiers: chr5:g.135489850C>T (hg19) ; chr5:g.136154161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154161C>T , CM000667.2:g.136154161C>T	GRCh38
NC_000005.9:g.135489850C>T , CM000667.1:g.135489850C>T	GRCh37
NC_000005.8:g.135517749C>T	NCBI36
NG_032037.1:g.26315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.401C>T	ENSP00000426696.2:p.Pro134Leu
ENST00000545279.6:c.401C>T MANE Select	ENSP00000441954.2:p.Pro134Leu
ENST00000511116.5:c.401C>T	ENSP00000424279.1:p.Pro134Leu
ENST00000514777.1:n.60-18273C>T
ENST00000545279.5:c.401C>T	ENSP00000441954.2:p.Pro134Leu
ENST00000545620.5:c.401C>T	ENSP00000446474.2:p.Pro134Leu
NM_001001419.2:c.401C>T	NP_001001419.1:p.Pro134Leu
NM_001001420.2:c.401C>T	NP_001001420.1:p.Pro134Leu
NM_005903.6:c.401C>T	NP_005894.3:p.Pro134Leu
XR_948810.1:n.1973+1266G>A
XM_017009470.2:c.401C>T	XP_016864959.1:p.Pro134Leu
XM_024446046.1:c.401C>T	XP_024301814.1:p.Pro134Leu
XM_024446047.1:c.401C>T	XP_024301815.1:p.Pro134Leu
NM_005903.7:c.401C>T MANE Select	NP_005894.3:p.Pro134Leu
NM_001001419.3:c.401C>T	NP_001001419.1:p.Pro134Leu
NM_001001420.3:c.401C>T	NP_001001420.1:p.Pro134Leu