Canonical Allele Identifier: CA398629236

Gene: SHMT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583780.2:c.1420C>G	ENSP00000462041.2:p.Leu474Val
ENST00000316694.8:c.1420C>G MANE Select	ENSP00000318868.3:p.Leu474Val
ENST00000316694.7:c.1420C>G	ENSP00000318868.3:p.Leu474Val
ENST00000352886.10:c.1006C>G	ENSP00000345881.7:p.Leu336Val
ENST00000354098.7:c.1303C>G	ENSP00000318805.3:p.Leu435Val
ENST00000395684.5:n.1743C>G
ENST00000580002.5:c.*917C>G	ENSP00000462043.1:n.*917C>G
NM_001281786.1:c.1006C>G	NP_001268715.1:p.Leu336Val
NM_004169.4:c.1420C>G	NP_004160.3:p.Leu474Val
NM_148918.2:c.1303C>G	NP_683718.1:p.Leu435Val
XM_005256767.2:c.1420C>G	XP_005256824.1:p.Leu474Val
XM_011523992.1:c.1180C>G	XP_011522294.1:p.Leu394Val
XM_005256767.3:c.1420C>G	XP_005256824.1:p.Leu474Val
XM_011523992.3:c.1180C>G	XP_011522294.1:p.Leu394Val
XM_017024957.1:c.1420C>G	XP_016880446.1:p.Leu474Val
XM_017024958.1:c.1303C>G	XP_016880447.1:p.Leu435Val
XM_024450887.1:c.1180C>G	XP_024306655.1:p.Leu394Val
XM_024450888.1:c.1006C>G	XP_024306656.1:p.Leu336Val
XM_024450889.1:c.889C>G	XP_024306657.1:p.Leu297Val
XM_024450890.1:c.766C>G	XP_024306658.1:p.Leu256Val
NM_004169.5:c.1420C>G MANE Select	NP_004160.3:p.Leu474Val
NM_001281786.2:c.1006C>G	NP_001268715.1:p.Leu336Val
NM_148918.3:c.1303C>G	NP_683718.1:p.Leu435Val