Canonical Allele Identifier: CA398629239

Gene: SHMT1

Linked Data

• dbSNP Id: rs1979277
• gnomAD v4: 17-18328782-G-T
• MyVariant Identifiers: chr17:g.18232096G>T (hg19) ; chr17:g.18328782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328782G>T , CM000679.2:g.18328782G>T	GRCh38
NC_000017.10:g.18232096G>T , CM000679.1:g.18232096G>T	GRCh37
NC_000017.9:g.18172821G>T	NCBI36
NG_017111.1:g.39761C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1420C>A	ENSP00000462041.2:p.Leu474Ile
ENST00000316694.8:c.1420C>A MANE Select	ENSP00000318868.3:p.Leu474Ile
ENST00000316694.7:c.1420C>A	ENSP00000318868.3:p.Leu474Ile
ENST00000352886.10:c.1006C>A	ENSP00000345881.7:p.Leu336Ile
ENST00000354098.7:c.1303C>A	ENSP00000318805.3:p.Leu435Ile
ENST00000395684.5:n.1743C>A
ENST00000580002.5:c.*917C>A	ENSP00000462043.1:n.*917C>A
NM_001281786.1:c.1006C>A	NP_001268715.1:p.Leu336Ile
NM_004169.4:c.1420C>A	NP_004160.3:p.Leu474Ile
NM_148918.2:c.1303C>A	NP_683718.1:p.Leu435Ile
XM_005256767.2:c.1420C>A	XP_005256824.1:p.Leu474Ile
XM_011523992.1:c.1180C>A	XP_011522294.1:p.Leu394Ile
XM_005256767.3:c.1420C>A	XP_005256824.1:p.Leu474Ile
XM_011523992.3:c.1180C>A	XP_011522294.1:p.Leu394Ile
XM_017024957.1:c.1420C>A	XP_016880446.1:p.Leu474Ile
XM_017024958.1:c.1303C>A	XP_016880447.1:p.Leu435Ile
XM_024450887.1:c.1180C>A	XP_024306655.1:p.Leu394Ile
XM_024450888.1:c.1006C>A	XP_024306656.1:p.Leu336Ile
XM_024450889.1:c.889C>A	XP_024306657.1:p.Leu297Ile
XM_024450890.1:c.766C>A	XP_024306658.1:p.Leu256Ile
NM_004169.5:c.1420C>A MANE Select	NP_004160.3:p.Leu474Ile
NM_001281786.2:c.1006C>A	NP_001268715.1:p.Leu336Ile
NM_148918.3:c.1303C>A	NP_683718.1:p.Leu435Ile