Canonical Allele Identifier: CA4851435

Gene: TRPS1

Linked Data

• dbSNP Id: rs753975231
• ExAC: 8:116426280 C / G
• gnomAD v2: 8-116426280-C-G
• gnomAD v4: 8-115414052-C-G
• MyVariant Identifiers: chr8:g.116426280C>G (hg19) ; chr8:g.115414052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414052C>G , CM000670.2:g.115414052C>G	GRCh38
NC_000008.10:g.116426280C>G , CM000670.1:g.116426280C>G	GRCh37
NC_000008.9:g.116495456C>G	NCBI36
NG_012383.3:g.259950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3856G>C MANE Select	ENSP00000379065.3:p.Val1286Leu
ENST00000640765.1:c.3817G>C	ENSP00000492037.1:p.Val1273Leu
ENST00000220888.9:c.3817G>C	ENSP00000220888.5:p.Val1273Leu
ENST00000395715.7:c.3856G>C	ENSP00000379065.3:p.Val1286Leu
ENST00000519076.5:c.3079G>C	ENSP00000428910.1:p.Val1027Leu
ENST00000520276.5:c.3829G>C	ENSP00000428680.1:p.Val1277Leu
NM_001282902.2:c.3829G>C	NP_001269831.1:p.Val1277Leu
NM_001282903.2:c.3835G>C	NP_001269832.1:p.Val1279Leu
NM_014112.4:c.3856G>C	NP_054831.2:p.Val1286Leu
XM_005251049.2:c.3817G>C	XP_005251106.1:p.Val1273Leu
XM_006716625.1:c.3856G>C	XP_006716688.1:p.Val1286Leu
XM_011517264.1:c.3856G>C	XP_011515566.1:p.Val1286Leu
XM_011517265.1:c.3856G>C	XP_011515567.1:p.Val1286Leu
XM_011517266.1:c.3856G>C	XP_011515568.1:p.Val1286Leu
XM_011517267.1:c.3835G>C	XP_011515569.1:p.Val1279Leu
XM_011517268.1:c.3817G>C	XP_011515570.1:p.Val1273Leu
NM_001330599.1:c.3817G>C	NP_001317528.1:p.Val1273Leu
XM_011517264.2:c.3856G>C	XP_011515566.1:p.Val1286Leu
XM_011517266.3:c.3856G>C	XP_011515568.1:p.Val1286Leu
XM_011517268.2:c.3817G>C	XP_011515570.1:p.Val1273Leu
NM_001282902.3:c.3829G>C	NP_001269831.1:p.Val1277Leu
NM_001282903.3:c.3835G>C	NP_001269832.1:p.Val1279Leu
NM_001330599.2:c.3817G>C	NP_001317528.1:p.Val1273Leu
NM_014112.5:c.3856G>C MANE Select	NP_054831.2:p.Val1286Leu