Canonical Allele Identifier: CA400191806
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1238848569

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185864G>C , CM000679.2:g.50185864G>C GRCh38
NC_000017.10:g.48263225G>C , CM000679.1:g.48263225G>C GRCh37
NC_000017.9:g.45618224G>C NCBI36
NG_007400.1:g.20776C>G , LRG_1:g.20776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4162C>G MANE Select ENSP00000225964.6:p.Leu1388Val
ENST00000225964.9:c.4162C>G ENSP00000225964.5:p.Leu1388Val
ENST00000510710.3:n.1127C>G
NM_000088.3:c.4162C>G , LRG_1t1:c.4162C>G NP_000079.2:p.Leu1388Val
XM_005257058.3:c.3892C>G XP_005257115.2:p.Leu1298Val
XM_005257059.3:c.3244C>G XP_005257116.2:p.Leu1082Val
XM_011524341.1:c.3964C>G XP_011522643.1:p.Leu1322Val
XM_005257058.4:c.3892C>G XP_005257115.2:p.Leu1298Val
XM_005257059.4:c.3244C>G XP_005257116.2:p.Leu1082Val
NM_000088.4:c.4162C>G MANE Select NP_000079.2:p.Leu1388Val