Canonical Allele Identifier: CA260305
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35918
dbSNP Id: rs193922153

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189173G>A , CM000679.2:g.50189173G>A GRCh38
NC_000017.10:g.48266534G>A , CM000679.1:g.48266534G>A GRCh37
NC_000017.9:g.45621533G>A NCBI36
NG_007400.1:g.17467C>T , LRG_1:g.17467C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2932C>T MANE Select ENSP00000225964.6:p.Pro978Ser
ENST00000225964.9:c.2932C>T ENSP00000225964.5:p.Pro978Ser
NM_000088.3:c.2932C>T , LRG_1t1:c.2932C>T NP_000079.2:p.Pro978Ser
XM_005257058.3:c.2668-163C>T XP_005257115.2:n.2668-163C>T
XM_005257059.3:c.2014C>T XP_005257116.2:p.Pro672Ser
XM_011524341.1:c.2734C>T XP_011522643.1:p.Pro912Ser
XM_005257058.4:c.2668-163C>T XP_005257115.2:n.2668-163C>T
XM_005257059.4:c.2014C>T XP_005257116.2:p.Pro672Ser
NM_000088.4:c.2932C>T MANE Select NP_000079.2:p.Pro978Ser